publications.bib

@article{pelletier_epigenetic_2022,
	title = {Epigenetic and {Transcriptomic} {Programming} of {HSC} {Quiescence} {Signaling} in {Large} for {Gestational} {Age} {Neonates}},
	volume = {23},
	issn = {1422-0067},
	url = {https://www.mdpi.com/1422-0067/23/13/7323},
	doi = {10.3390/ijms23137323},
	abstract = {Excessive fetal growth is associated with DNA methylation alterations in human hematopoietic stem and progenitor cells (HSPC), but their functional impact remains elusive. We implemented an integrative analysis combining single-cell epigenomics, single-cell transcriptomics, and in vitro analyses to functionally link DNA methylation changes to putative alterations of HSPC functions. We showed in hematopoietic stem cells (HSC) from large for gestational age neonates that both DNA hypermethylation and chromatin rearrangements target a specific network of transcription factors known to sustain stem cell quiescence. In parallel, we found a decreased expression of key genes regulating HSC differentiation including EGR1, KLF2, SOCS3, and JUNB. Our functional analyses showed that this epigenetic programming was associated with a decreased ability for HSCs to remain quiescent. Taken together, our multimodal approach using single-cell (epi)genomics showed that human fetal overgrowth affects hematopoietic stem cells’ quiescence signaling via epigenetic programming.},
	language = {en},
	number = {13},
	urldate = {2023-03-04},
	journal = {International Journal of Molecular Sciences},
	author = {Pelletier, Alexandre and Carrier, Arnaud and Zhao, Yongmei and Canouil, Mickaël and Derhourhi, Mehdi and Durand, Emmanuelle and Berberian-Ferrato, Lionel and Greally, John and Hughes, Francine and Froguel, Philippe and Bonnefond, Amélie and Delahaye, Fabien},
	month = jun,
	year = {2022},
	pages = {7323},
}

@article{mahajan_multi-ancestry_2022,
	title = {Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation},
	volume = {54},
	issn = {1061-4036, 1546-1718},
	url = {https://www.nature.com/articles/s41588-022-01058-3},
	doi = {10.1038/s41588-022-01058-3},
	language = {en},
	number = {5},
	urldate = {2023-03-04},
	journal = {Nature Genetics},
	author = {Mahajan, Anubha and Spracklen, Cassandra N. and Zhang, Weihua and Ng, Maggie C. Y. and Petty, Lauren E. and Kitajima, Hidetoshi and Yu, Grace Z. and Rüeger, Sina and Speidel, Leo and Kim, Young Jin and Horikoshi, Momoko and Mercader, Josep M. and Taliun, Daniel and Moon, Sanghoon and Kwak, Soo-Heon and Robertson, Neil R. and Rayner, Nigel W. and Loh, Marie and Kim, Bong-Jo and Chiou, Joshua and Miguel-Escalada, Irene and della Briotta Parolo, Pietro and Lin, Kuang and Bragg, Fiona and Preuss, Michael H. and Takeuchi, Fumihiko and Nano, Jana and Guo, Xiuqing and Lamri, Amel and Nakatochi, Masahiro and Scott, Robert A. and Lee, Jung-Jin and Huerta-Chagoya, Alicia and Graff, Mariaelisa and Chai, Jin-Fang and Parra, Esteban J. and Yao, Jie and Bielak, Lawrence F. and Tabara, Yasuharu and Hai, Yang and Steinthorsdottir, Valgerdur and Cook, James P. and Kals, Mart and Grarup, Niels and Schmidt, Ellen M. and Pan, Ian and Sofer, Tamar and Wuttke, Matthias and Sarnowski, Chloe and Gieger, Christian and Nousome, Darryl and Trompet, Stella and Long, Jirong and Sun, Meng and Tong, Lin and Chen, Wei-Min and Ahmad, Meraj and Noordam, Raymond and Lim, Victor J. Y. and Tam, Claudia H. T. and Joo, Yoonjung Yoonie and Chen, Chien-Hsiun and Raffield, Laura M. and Lecoeur, Cécile and Prins, Bram Peter and Nicolas, Aude and Yanek, Lisa R. and Chen, Guanjie and Jensen, Richard A. and Tajuddin, Salman and Kabagambe, Edmond K. and An, Ping and Xiang, Anny H. and Choi, Hyeok Sun and Cade, Brian E. and Tan, Jingyi and Flanagan, Jack and Abaitua, Fernando and Adair, Linda S. and Adeyemo, Adebowale and Aguilar-Salinas, Carlos A. and Akiyama, Masato and Anand, Sonia S. and Bertoni, Alain and Bian, Zheng and Bork-Jensen, Jette and Brandslund, Ivan and Brody, Jennifer A. and Brummett, Chad M. and Buchanan, Thomas A. and Canouil, Mickaël and Chan, Juliana C. N. and Chang, Li-Ching and Chee, Miao-Li and Chen, Ji and Chen, Shyh-Huei and Chen, Yuan-Tsong and Chen, Zhengming and Chuang, Lee-Ming and Cushman, Mary and Das, Swapan K. and de Silva, H. Janaka and Dedoussis, George and Dimitrov, Latchezar and Doumatey, Ayo P. and Du, Shufa and Duan, Qing and Eckardt, Kai-Uwe and Emery, Leslie S. and Evans, Daniel S. and Evans, Michele K. and Fischer, Krista and Floyd, James S. and Ford, Ian and Fornage, Myriam and Franco, Oscar H. and Frayling, Timothy M. and Freedman, Barry I. and Fuchsberger, Christian and Genter, Pauline and Gerstein, Hertzel C. and Giedraitis, Vilmantas and González-Villalpando, Clicerio and González-Villalpando, Maria Elena and Goodarzi, Mark O. and Gordon-Larsen, Penny and Gorkin, David and Gross, Myron and Guo, Yu and Hackinger, Sophie and Han, Sohee and Hattersley, Andrew T. and Herder, Christian and Howard, Annie-Green and Hsueh, Willa and Huang, Mengna and Huang, Wei and Hung, Yi-Jen and Hwang, Mi Yeong and Hwu, Chii-Min and Ichihara, Sahoko and Ikram, Mohammad Arfan and Ingelsson, Martin and Islam, Md Tariqul and Isono, Masato and Jang, Hye-Mi and Jasmine, Farzana and Jiang, Guozhi and Jonas, Jost B. and Jørgensen, Marit E. and Jørgensen, Torben and Kamatani, Yoichiro and Kandeel, Fouad R. and Kasturiratne, Anuradhani and Katsuya, Tomohiro and Kaur, Varinderpal and Kawaguchi, Takahisa and Keaton, Jacob M. and Kho, Abel N. and Khor, Chiea-Chuen and Kibriya, Muhammad G. and Kim, Duk-Hwan and Kohara, Katsuhiko and Kriebel, Jennifer and Kronenberg, Florian and Kuusisto, Johanna and Läll, Kristi and Lange, Leslie A. and Lee, Myung-Shik and Lee, Nanette R. and Leong, Aaron and Li, Liming and Li, Yun and Li-Gao, Ruifang and Ligthart, Symen and Lindgren, Cecilia M. and Linneberg, Allan and Liu, Ching-Ti and Liu, Jianjun and Locke, Adam E. and Louie, Tin and Luan, Jian’an and Luk, Andrea O. and Luo, Xi and Lv, Jun and Lyssenko, Valeriya and Mamakou, Vasiliki and Mani, K. Radha and Meitinger, Thomas and Metspalu, Andres and Morris, Andrew D. and Nadkarni, Girish N. and Nadler, Jerry L. and Nalls, Michael A. and Nayak, Uma and Nongmaithem, Suraj S. and Ntalla, Ioanna and Okada, Yukinori and Orozco, Lorena and Patel, Sanjay R. and Pereira, Mark A. and Peters, Annette and Pirie, Fraser J. and Porneala, Bianca and Prasad, Gauri and Preissl, Sebastian and Rasmussen-Torvik, Laura J. and Reiner, Alexander P. and Roden, Michael and Rohde, Rebecca and Roll, Kathryn and Sabanayagam, Charumathi and Sander, Maike and Sandow, Kevin and Sattar, Naveed and Schönherr, Sebastian and Schurmann, Claudia and Shahriar, Mohammad and Shi, Jinxiu and Shin, Dong Mun and Shriner, Daniel and Smith, Jennifer A. and So, Wing Yee and Stančáková, Alena and Stilp, Adrienne M. and Strauch, Konstantin and Suzuki, Ken and Takahashi, Atsushi and Taylor, Kent D. and Thorand, Barbara and Thorleifsson, Gudmar and Thorsteinsdottir, Unnur and Tomlinson, Brian and Torres, Jason M. and Tsai, Fuu-Jen and Tuomilehto, Jaakko and Tusie-Luna, Teresa and Udler, Miriam S. and Valladares-Salgado, Adan and van Dam, Rob M. and van Klinken, Jan B. and Varma, Rohit and Vujkovic, Marijana and Wacher-Rodarte, Niels and Wheeler, Eleanor and Whitsel, Eric A. and Wickremasinghe, Ananda R. and van Dijk, Ko Willems and Witte, Daniel R. and Yajnik, Chittaranjan S. and Yamamoto, Ken and Yamauchi, Toshimasa and Yengo, Loïc and Yoon, Kyungheon and Yu, Canqing and Yuan, Jian-Min and Yusuf, Salim and Zhang, Liang and Zheng, Wei and {FinnGen} and Rüeger, Sina and della Briotta Parolo, Pietro and {eMERGE Consortium} and Joo, Yoonjung Yoonie and Hayes, M. Geoffrey and Raffel, Leslie J. and Igase, Michiya and Ipp, Eli and Redline, Susan and Cho, Yoon Shin and Lind, Lars and Province, Michael A. and Hanis, Craig L. and Peyser, Patricia A. and Ingelsson, Erik and Zonderman, Alan B. and Psaty, Bruce M. and Wang, Ya-Xing and Rotimi, Charles N. and Becker, Diane M. and Matsuda, Fumihiko and Liu, Yongmei and Zeggini, Eleftheria and Yokota, Mitsuhiro and Rich, Stephen S. and Kooperberg, Charles and Pankow, James S. and Engert, James C. and Chen, Yii-Der Ida and Froguel, Philippe and Wilson, James G. and Sheu, Wayne H. H. and Kardia, Sharon L. R. and Wu, Jer-Yuarn and Hayes, M. Geoffrey and Ma, Ronald C. W. and Wong, Tien-Yin and Groop, Leif and Mook-Kanamori, Dennis O. and Chandak, Giriraj R. and Collins, Francis S. and Bharadwaj, Dwaipayan and Paré, Guillaume and Sale, Michèle M. and Ahsan, Habibul and Motala, Ayesha A. and Shu, Xiao-Ou and Park, Kyong-Soo and Jukema, J. Wouter and Cruz, Miguel and McKean-Cowdin, Roberta and Grallert, Harald and Cheng, Ching-Yu and Bottinger, Erwin P. and Dehghan, Abbas and Tai, E-Shyong and Dupuis, Josée and Kato, Norihiro and Laakso, Markku and Köttgen, Anna and Koh, Woon-Puay and Palmer, Colin N. A. and Liu, Simin and Abecasis, Goncalo and Kooner, Jaspal S. and Loos, Ruth J. F. and North, Kari E. and Haiman, Christopher A. and Florez, Jose C. and Saleheen, Danish and Hansen, Torben and Pedersen, Oluf and Mägi, Reedik and Langenberg, Claudia and Wareham, Nicholas J. and Maeda, Shiro and Kadowaki, Takashi and Lee, Juyoung and Millwood, Iona Y. and Walters, Robin G. and Stefansson, Kari and Myers, Simon R. and Ferrer, Jorge and Gaulton, Kyle J. and Meigs, James B. and Mohlke, Karen L. and Gloyn, Anna L. and Bowden, Donald W. and Below, Jennifer E. and Chambers, John C. and Sim, Xueling and Boehnke, Michael and Rotter, Jerome I. and McCarthy, Mark I. and Morris, Andrew P.},
	month = may,
	year = {2022},
	pages = {560--572},
}

@article{khamis_epigenetic_2022,
	title = {Epigenetic changes associated with hyperglycaemia exposure in the longitudinal {D}.{E}.{S}.{I}.{R}. cohort},
	volume = {48},
	issn = {12623636},
	url = {https://linkinghub.elsevier.com/retrieve/pii/S1262363622000301},
	doi = {10.1016/j.diabet.2022.101347},
	language = {en},
	number = {4},
	urldate = {2023-03-04},
	journal = {Diabetes \& Metabolism},
	author = {Khamis, Amna and Ning, Lijiao and Balkau, Beverley and Bonnefond, Amélie and Canouil, Mickaël and Roussel, Ronan and Froguel, Philippe},
	month = jul,
	year = {2022},
	pages = {101347},
}

@article{pervjakova_multi-ancestry_2022,
	title = {Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes},
	volume = {31},
	issn = {0964-6906, 1460-2083},
	url = {https://academic.oup.com/hmg/article/31/19/3377/6537590},
	doi = {10.1093/hmg/ddac050},
	abstract = {Abstract
            Gestational diabetes mellitus (GDM) is associated with increased risk of pregnancy complications and adverse perinatal outcomes. GDM often reoccurs and is associated with increased risk of subsequent diagnosis of type 2 diabetes (T2D). To improve our understanding of the aetiological factors and molecular processes driving the occurrence of GDM, including the extent to which these overlap with T2D pathophysiology, the GENetics of Diabetes In Pregnancy Consortium assembled genome-wide association studies of diverse ancestry in a total of 5485 women with GDM and 347 856 without GDM. Through multi-ancestry meta-analysis, we identified five loci with genome-wide significant association (P \< 5 × 10−8) with GDM, mapping to/near MTNR1B (P = 4.3 × 10−54), TCF7L2 (P = 4.0 × 10−16), CDKAL1 (P = 1.6 × 10−14), CDKN2A-CDKN2B (P = 4.1 × 10−9) and HKDC1 (P = 2.9 × 10−8). Multiple lines of evidence pointed to the shared pathophysiology of GDM and T2D: (i) four of the five GDM loci (not HKDC1) have been previously reported at genome-wide significance for T2D; (ii) significant enrichment for associations with GDM at previously reported T2D loci; (iii) strong genetic correlation between GDM and T2D and (iv) enrichment of GDM associations mapping to genomic annotations in diabetes-relevant tissues and transcription factor binding sites. Mendelian randomization analyses demonstrated significant causal association (5\% false discovery rate) of higher body mass index on increased GDM risk. Our results provide support for the hypothesis that GDM and T2D are part of the same underlying pathology but that, as exemplified by the HKDC1 locus, there are genetic determinants of GDM that are specific to glucose regulation in pregnancy.},
	language = {en},
	number = {19},
	urldate = {2023-03-04},
	journal = {Human Molecular Genetics},
	author = {Pervjakova, Natalia and Moen, Gunn-Helen and Borges, Maria-Carolina and Ferreira, Teresa and Cook, James P and Allard, Catherine and Beaumont, Robin N and Canouil, Mickaël and Hatem, Gad and Heiskala, Anni and Joensuu, Anni and Karhunen, Ville and Kwak, Soo Heon and Lin, Frederick T J and Liu, Jun and Rifas-Shiman, Sheryl and Tam, Claudia H and Tam, Wing Hung and Thorleifsson, Gudmar and Andrew, Toby and Auvinen, Juha and Bhowmik, Bishwajit and Bonnefond, Amélie and Delahaye, Fabien and Demirkan, Ayse and Froguel, Philippe and Haller-Kikkatalo, Kadri and Hardardottir, Hildur and Hummel, Sandra and Hussain, Akhtar and Kajantie, Eero and Keikkala, Elina and Khamis, Amna and Lahti, Jari and Lekva, Tove and Mustaniemi, Sanna and Sommer, Christine and Tagoma, Aili and Tzala, Evangelia and Uibo, Raivo and Vääräsmäki, Marja and Villa, Pia M and Birkeland, Kåre I and Bouchard, Luigi and Duijn, Cornelia M and Finer, Sarah and Groop, Leif and Hämäläinen, Esa and Hayes, Geoffrey M and Hitman, Graham A and Jang, Hak C and Järvelin, Marjo-Riitta and Jenum, Anne Karen and Laivuori, Hannele and Ma, Ronald C and Melander, Olle and Oken, Emily and Park, Kyong Soo and Perron, Patrice and Prasad, Rashmi B and Qvigstad, Elisabeth and Sebert, Sylvain and Stefansson, Kari and Steinthorsdottir, Valgerdur and Tuomi, Tiinamaija and Hivert, Marie-France and Franks, Paul W and McCarthy, Mark I and Lindgren, Cecilia M and Freathy, Rachel M and Lawlor, Deborah A and Morris, Andrew P and Mägi, Reedik},
	month = feb,
	year = {2022},
	pages = {3377--3391},
}

@article{tobi_maternal_2022,
	title = {Maternal {Glycemic} {Dysregulation} {During} {Pregnancy} and {Neonatal} {Blood} {DNA} {Methylation}: {Meta}-analyses of {Epigenome}-{Wide} {Association} {Studies}},
	volume = {45},
	issn = {0149-5992},
	shorttitle = {Maternal {Glycemic} {Dysregulation} {During} {Pregnancy} and {Neonatal} {Blood} {DNA} {Methylation}},
	url = {https://diabetesjournals.org/care/article/45/3/614/141057/Maternal-Glycemic-Dysregulation-During-Pregnancy},
	doi = {10.2337/dc21-1701},
	abstract = {OBJECTIVE
              Maternal glycemic dysregulation during pregnancy increases the risk of adverse health outcomes in her offspring, a risk thought to be linearly related to maternal hyperglycemia. It is hypothesized that changes in offspring DNA methylation (DNAm) underline these associations.
            
            
              RESEARCH DESIGN AND METHODS
              To address this hypothesis, we conducted fixed-effects meta-analyses of epigenome-wide association study (EWAS) results from eight birth cohorts investigating relationships between cord blood DNAm and fetal exposure to maternal glucose (Nmaximum = 3,503), insulin (Nmaximum = 2,062), and area under the curve of glucose (AUCgluc) following oral glucose tolerance tests (Nmaximum = 1,505). We performed lookup analyses for identified cytosine-guanine dinucleotides (CpGs) in independent observational cohorts to examine associations between DNAm and cardiometabolic traits as well as tissue-specific gene expression.
            
            
              RESULTS
              Greater maternal AUCgluc was associated with lower cord blood DNAm at neighboring CpGs cg26974062 (β [SE] −0.013 [2.1 × 10−3], P value corrected for false discovery rate [PFDR] = 5.1 × 10−3) and cg02988288 (β [SE]−0.013 [2.3 × 10−3], PFDR = 0.031) in TXNIP. These associations were attenuated in women with GDM. Lower blood DNAm at these two CpGs near TXNIP was associated with multiple metabolic traits later in life, including type 2 diabetes. TXNIP DNAm in liver biopsies was associated with hepatic expression of TXNIP. We observed little evidence of associations between either maternal glucose or insulin and cord blood DNAm.
            
            
              CONCLUSIONS
              Maternal hyperglycemia, as reflected by AUCgluc, was associated with lower cord blood DNAm at TXNIP. Associations between DNAm at these CpGs and metabolic traits in subsequent lookup analyses suggest that these may be candidate loci to investigate in future causal and mediation analyses.},
	language = {en},
	number = {3},
	urldate = {2023-03-04},
	journal = {Diabetes Care},
	author = {Tobi, Elmar W. and Juvinao-Quintero, Diana L. and Ronkainen, Justiina and Ott, Raffael and Alfano, Rossella and Canouil, Mickaël and Geurtsen, Madelon L. and Khamis, Amna and Küpers, Leanne K. and Lim, Ives Y. and Perron, Patrice and Pesce, Giancarlo and Tuhkanen, Johanna and Starling, Anne P. and Andrew, Toby and Binder, Elisabeth and Caiazzo, Robert and Chan, Jerry K.Y. and Gaillard, Romy and Gluckman, Peter D. and Keikkala, Elina and Karnani, Neerja and Mustaniemi, Sanna and Nawrot, Tim S. and Pattou, François and Plusquin, Michelle and Raverdy, Violeta and Tan, Kok Hian and Tzala, Evangelia and Raikkonen, Katri and Winkler, Christiane and Ziegler, Anette-G. and Annesi-Maesano, Isabella and Bouchard, Luigi and Chong, Yap Seng and Dabelea, Dana and Felix, Janine F. and Heude, Barbara and Jaddoe, Vincent W.V. and Lahti, Jari and Reimann, Brigitte and Vääräsmäki, Marja and Bonnefond, Amélie and Froguel, Philippe and Hummel, Sandra and Kajantie, Eero and Jarvelin, Marjo-Riita and Steegers-Theunissen, Regine P.M. and Howe, Caitlin G. and Hivert, Marie-France and Sebert, Sylvain},
	month = mar,
	year = {2022},
	pages = {614--623},
}

@article{wesolowska-andersen_four_2022,
	title = {Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals: {An} {IMI} {DIRECT} study},
	volume = {3},
	issn = {26663791},
	shorttitle = {Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals},
	url = {https://linkinghub.elsevier.com/retrieve/pii/S2666379121003499},
	doi = {10.1016/j.xcrm.2021.100477},
	language = {en},
	number = {1},
	urldate = {2023-03-04},
	journal = {Cell Reports Medicine},
	author = {Wesolowska-Andersen, Agata and Brorsson, Caroline A. and Bizzotto, Roberto and Mari, Andrea and Tura, Andrea and Koivula, Robert and Mahajan, Anubha and Vinuela, Ana and Tajes, Juan Fernandez and Sharma, Sapna and Haid, Mark and Prehn, Cornelia and Artati, Anna and Hong, Mun-Gwan and Musholt, Petra B. and Kurbasic, Azra and De Masi, Federico and Tsirigos, Kostas and Pedersen, Helle Krogh and Gudmundsdottir, Valborg and Thomas, Cecilia Engel and Banasik, Karina and Jennison, Chrisopher and Jones, Angus and Kennedy, Gwen and Bell, Jimmy and Thomas, Louise and Frost, Gary and Thomsen, Henrik and Allin, Kristine and Hansen, Tue Haldor and Vestergaard, Henrik and Hansen, Torben and Rutters, Femke and Elders, Petra and t’Hart, Leen and Bonnefond, Amelie and Canouil, Mickaël and Brage, Soren and Kokkola, Tarja and Heggie, Alison and McEvoy, Donna and Hattersley, Andrew and McDonald, Timothy and Teare, Harriet and Ridderstrale, Martin and Walker, Mark and Forgie, Ian and Giordano, Giuseppe N. and Froguel, Philippe and Pavo, Imre and Ruetten, Hartmut and Pedersen, Oluf and Dermitzakis, Emmanouil and Franks, Paul W. and Schwenk, Jochen M. and Adamski, Jerzy and Pearson, Ewan and McCarthy, Mark I. and Brunak, Søren},
	month = jan,
	year = {2022},
	pages = {100477},
}

@article{saeed_rare_2022,
	title = {Rare {Variant} {Analysis} of {Obesity}-{Associated} {Genes} in {Young} {Adults} {With} {Severe} {Obesity} {From} a {Consanguineous} {Population} of {Pakistan}},
	volume = {71},
	issn = {0012-1797},
	url = {https://diabetesjournals.org/diabetes/article/71/4/694/140942/Rare-Variant-Analysis-of-Obesity-Associated-Genes},
	doi = {10.2337/db21-0373},
	abstract = {Recent advances in genetic analysis have significantly helped in progressively attenuating the heritability gap of obesity and have brought into focus monogenic variants that disrupt the melanocortin signaling. In a previous study, next-generation sequencing revealed a monogenic etiology in ∼50\% of the children with severe obesity from a consanguineous population in Pakistan. Here we assess rare variants in obesity-causing genes in young adults with severe obesity from the same region. Genomic DNA from 126 randomly selected young adult obese subjects (BMI 37.2 ± 0.3 kg/m2; age 18.4 ± 0.3 years) was screened by conventional or augmented whole-exome analysis for point mutations and copy number variants (CNVs). Leptin, insulin, and cortisol levels were measured by ELISA. We identified 13 subjects carrying 13 different pathogenic or likely pathogenic variants in LEPR, PCSK1, MC4R, NTRK2, POMC, SH2B1, and SIM1. We also identified for the first time in the human, two homozygous stop-gain mutations in ASNSD1 and IFI16 genes. Inactivation of these genes in mouse models has been shown to result in obesity. Additionally, we describe nine homozygous mutations (seven missense, one stop-gain, and one stop-loss) and four copy-loss CNVs in genes or genomic regions previously linked to obesity-associated traits by genome-wide association studies. Unexpectedly, in contrast to obese children, pathogenic mutations in LEP and LEPR were either absent or rare in this cohort of young adults. High morbidity and mortality risks and social disadvantage of children with LEP or LEPR deficiency may in part explain this difference between the two cohorts.},
	language = {en},
	number = {4},
	urldate = {2023-03-04},
	journal = {Diabetes},
	author = {Saeed, Sadia and Janjua, Qasim M. and Haseeb, Attiya and Khanam, Roohia and Durand, Emmanuelle and Vaillant, Emmanuel and Ning, Lijiao and Badreddine, Alaa and Berberian, Lionel and Boissel, Mathilde and Amanzougarene, Souhila and Canouil, Mickaël and Derhourhi, Mehdi and Bonnefond, Amélie and Arslan, Muhammad and Froguel, Philippe},
	month = apr,
	year = {2022},
	pages = {694--705},
}

@article{wu_elevated_2021,
	title = {Elevated circulating follistatin associates with an increased risk of type 2 diabetes},
	volume = {12},
	issn = {2041-1723},
	url = {https://www.nature.com/articles/s41467-021-26536-w},
	doi = {10.1038/s41467-021-26536-w},
	abstract = {Abstract
            
              The hepatokine follistatin is elevated in patients with type 2 diabetes (T2D) and promotes hyperglycemia in mice. Here we explore the relationship of plasma follistatin levels with incident T2D and mechanisms involved. Adjusted hazard ratio (HR) per standard deviation (SD) increase in follistatin levels for T2D is 1.24 (CI: 1.04–1.47,
              p
               {\textless} 0.05) during 19-year follow-up (
              n
               = 4060, Sweden); and 1.31 (CI: 1.09–1.58,
              p
               {\textless} 0.01) during 4-year follow-up (
              n
               = 883, Finland). High circulating follistatin associates with adipose tissue insulin resistance and non-alcoholic fatty liver disease (
              n
               = 210, Germany). In human adipocytes, follistatin dose-dependently increases free fatty acid release. In genome-wide association study (GWAS), variation in the glucokinase regulatory protein gene (
              GCKR
              ) associates with plasma follistatin levels (
              n
               = 4239, Sweden;
              n
               = 885, UK, Italy and Sweden) and GCKR regulates follistatin secretion in hepatocytes in vitro. Our findings suggest that GCKR regulates follistatin secretion and that elevated circulating follistatin associates with an increased risk of T2D by inducing adipose tissue insulin resistance.},
	language = {en},
	number = {1},
	urldate = {2023-03-04},
	journal = {Nature Communications},
	author = {Wu, Chuanyan and Borné, Yan and Gao, Rui and López Rodriguez, Maykel and Roell, William C. and Wilson, Jonathan M. and Regmi, Ajit and Luan, Cheng and Aly, Dina Mansour and Peter, Andreas and Machann, Jürgen and Staiger, Harald and Fritsche, Andreas and Birkenfeld, Andreas L. and Tao, Rongya and Wagner, Robert and Canouil, Mickaël and Hong, Mun-Gwan and Schwenk, Jochen M. and Ahlqvist, Emma and Kaikkonen, Minna U. and Nilsson, Peter and Shore, Angela C. and Khan, Faisel and Natali, Andrea and Melander, Olle and Orho-Melander, Marju and Nilsson, Jan and Häring, Hans-Ulrich and Renström, Erik and Wollheim, Claes B. and Engström, Gunnar and Weng, Jianping and Pearson, Ewan R. and Franks, Paul W. and White, Morris F. and Duffin, Kevin L. and Vaag, Allan Arthur and Laakso, Markku and Stefan, Norbert and Groop, Leif and De Marinis, Yang},
	month = nov,
	year = {2021},
	pages = {6486},
}

@article{hegron_identification_2021,
	title = {Identification of {Key} {Regions} {Mediating} {Human} {Melatonin} {Type} 1 {Receptor} {Functional} {Selectivity} {Revealed} by {Natural} {Variants}},
	volume = {4},
	issn = {2575-9108, 2575-9108},
	url = {https://pubs.acs.org/doi/10.1021/acsptsci.1c00157},
	doi = {10.1021/acsptsci.1c00157},
	language = {en},
	number = {5},
	urldate = {2023-03-04},
	journal = {ACS Pharmacology \& Translational Science},
	author = {Hegron, Alan and Huh, Eunna and Deupi, Xavier and Sokrat, Badr and Gao, Wenwen and Le Gouill, Christian and Canouil, Mickaël and Boissel, Mathilde and Charpentier, Guillaume and Roussel, Ronan and Balkau, Beverley and Froguel, Philippe and Plouffe, Bianca and Bonnefond, Amélie and Lichtarge, Olivier and Jockers, Ralf and Bouvier, Michel},
	month = oct,
	year = {2021},
	pages = {1614--1627},
}

@article{canouil_epigenome-wide_2021,
	title = {Epigenome-{Wide} {Association} {Study} {Reveals} {Methylation} {Loci} {Associated} {With} {Offspring} {Gestational} {Diabetes} {Mellitus} {Exposure} and {Maternal} {Methylome}},
	volume = {44},
	issn = {0149-5992, 1935-5548},
	url = {https://diabetesjournals.org/care/article/44/9/1992/138857/Epigenome-Wide-Association-Study-Reveals},
	doi = {10.2337/dc20-2960},
	abstract = {OBJECTIVE
              Gestational diabetes mellitus (GDM) is associated with an increased risk of obesity and insulin resistance in offspring later in life, which might be explained by epigenetic changes in response to maternal hyperglycemic exposure.
            
            
              RESEARCH DESIGN AND METHODS
              We explored the association between GDM exposure and maternal blood and newborn cord blood methylation in 536 mother-offspring pairs from the prospective FinnGeDi cohort using Illumina MethylationEPIC 850K BeadChip arrays. We assessed two hypotheses. First, we tested for shared maternal and offspring epigenetic effects resulting from GDM exposure. Second, we tested whether GDM exposure and maternal methylation had an epigenetic effect on the offspring.
            
            
              RESULTS
              We did not find any epigenetic marks (differentially methylated CpG probes) with shared and consistent effects between mothers and offspring. After including maternal methylation in the model, we identified a single significant (false discovery rate 1.38 × 10−2) CpG at the cg22790973 probe (TFCP2) associated with GDM. We identified seven additional FDR-significant interactions of maternal methylation and GDM status, with the strongest association at the same cg22790973 probe (TFCP2), as well as cg03456133, cg24440941 (H3C6), cg20002843 (LOC127841), cg19107264, and cg11493553 located within the UBE3C gene and cg17065901 in FAM13A, both susceptibility genes for type 2 diabetes and BMI, and cg23355087 within the DLGAP2 gene, known to be involved in insulin resistance during pregnancy.
            
            
              CONCLUSIONS
              Our study reveals the potential complexity of the epigenetic transmission between mothers with GDM and their offspring, likely determined by not only GDM exposure but also other factors indicated by maternal epigenetic status, such as maternal metabolic history.},
	language = {en},
	number = {9},
	urldate = {2023-03-04},
	journal = {Diabetes Care},
	author = {Canouil, Mickaël and Khamis, Amna and Keikkala, Elina and Hummel, Sandra and Lobbens, Stephane and Bonnefond, Amélie and Delahaye, Fabien and Tzala, Evangelia and Mustaniemi, Sanna and Vääräsmäki, Marja and Jarvelin, Marjo-Riitta and Sebert, Sylvain and Kajantie, Eero and Froguel, Philippe and Andrew, Toby},
	month = sep,
	year = {2021},
	pages = {1992--1999},
	annote = {first
},
}

@article{paccoud_shp2_2021,
	title = {{SHP2} drives inflammation-triggered insulin resistance by reshaping tissue macrophage populations},
	volume = {13},
	issn = {1946-6234, 1946-6242},
	url = {https://www.science.org/doi/10.1126/scitranslmed.abe2587},
	doi = {10.1126/scitranslmed.abe2587},
	abstract = {Hyperactive SHP2 promotes inflammation-driven insulin resistance by skewing macrophage balance in metabolic tissues and may be a target in T2D.
          , 
            Inflaming insulin resistance
            
              Patients with the developmental disorder Noonan syndrome (NS) may be prone to insulin resistance. Studying the hyperactivation of tyrosine phosphatase SHP2 associated with this disease, Paccoud
              et al
              . now pinpoint an inflammatory origin of insulin resistance. Hyperactivation of SHP2 associated with glucose intolerance and insulin resistance in patients with NS. In a hyperactive SHP2 mouse model, bone marrow–derived and liver-resident macrophages shifted toward a proinflammatory profile, leading to altered systemic glucose homeostasis. Small-molecule targeting of SHP2 in wild-type diet-induced obese mice reduced inflammation in metabolic tissues and improved insulin sensitivity, hinting at the potential of targeting SHP2 for metabolic syndrome.
            
          , 
            Insulin resistance is a key event in type 2 diabetes onset and a major comorbidity of obesity. It results from a combination of fat excess–triggered defects, including lipotoxicity and metaflammation, but the causal mechanisms remain difficult to identify. Here, we report that hyperactivation of the tyrosine phosphatase SHP2 found in Noonan syndrome (NS) led to an unsuspected insulin resistance profile uncoupled from altered lipid management (for example, obesity or ectopic lipid deposits) in both patients and mice. Functional exploration of an NS mouse model revealed this insulin resistance phenotype correlated with constitutive inflammation of tissues involved in the regulation of glucose metabolism. Bone marrow transplantation and macrophage depletion improved glucose homeostasis and decreased metaflammation in the mice, highlighting a key role of macrophages. In-depth analysis of bone marrow–derived macrophages in vitro and liver macrophages showed that hyperactive SHP2 promoted a proinflammatory phenotype, modified resident macrophage homeostasis, and triggered monocyte infiltration. Consistent with a role of SHP2 in promoting inflammation-driven insulin resistance, pharmaceutical SHP2 inhibition in obese diabetic mice improved insulin sensitivity even better than conventional antidiabetic molecules by specifically reducing metaflammation and alleviating macrophage activation. Together, these results reveal that SHP2 hyperactivation leads to inflammation-triggered metabolic impairments and highlight the therapeutical potential of SHP2 inhibition to ameliorate insulin resistance.},
	language = {en},
	number = {591},
	urldate = {2023-03-04},
	journal = {Science Translational Medicine},
	author = {Paccoud, Romain and Saint-Laurent, Céline and Piccolo, Enzo and Tajan, Mylène and Dortignac, Alizée and Pereira, Ophélie and Le Gonidec, Sophie and Baba, Inès and Gélineau, Adélaïde and Askia, Haoussa and Branchereau, Maxime and Charpentier, Julie and Personnaz, Jean and Branka, Sophie and Auriau, Johanna and Deleruyelle, Simon and Canouil, Mickaël and Beton, Nicolas and Salles, Jean-Pierre and Tauber, Maithé and Weill, Jacques and Froguel, Philippe and Neel, Benjamin G. and Araki, Toshiyuki and Heymes, Christophe and Burcelin, Rémy and Castan, Isabelle and Valet, Philippe and Dray, Cédric and Gautier, Emmanuel L. and Edouard, Thomas and Pradère, Jean-Philippe and Yart, Armelle},
	month = apr,
	year = {2021},
	pages = {eabe2587},
}

@article{hu_chromatin_2021,
	title = {Chromatin {3D} interaction analysis of the {STARD10} locus unveils {FCHSD2} as a regulator of insulin secretion},
	volume = {34},
	issn = {22111247},
	url = {https://linkinghub.elsevier.com/retrieve/pii/S2211124721000164},
	doi = {10.1016/j.celrep.2021.108703},
	language = {en},
	number = {5},
	urldate = {2023-03-04},
	journal = {Cell Reports},
	author = {Hu, Ming and Cebola, Inês and Carrat, Gaelle and Jiang, Shuying and Nawaz, Sameena and Khamis, Amna and Canouil, Mickaël and Froguel, Philippe and Schulte, Anke and Solimena, Michele and Ibberson, Mark and Marchetti, Piero and Cardenas-Diaz, Fabian L. and Gadue, Paul J. and Hastoy, Benoit and Almeida-Souza, Leonardo and McMahon, Harvey and Rutter, Guy A.},
	month = feb,
	year = {2021},
	pages = {108703},
}

@article{marselli_persistent_2020,
	title = {Persistent or {Transient} {Human} β {Cell} {Dysfunction} {Induced} by {Metabolic} {Stress}: {Specific} {Signatures} and {Shared} {Gene} {Expression} with {Type} 2 {Diabetes}},
	volume = {33},
	issn = {22111247},
	shorttitle = {Persistent or {Transient} {Human} β {Cell} {Dysfunction} {Induced} by {Metabolic} {Stress}},
	url = {https://linkinghub.elsevier.com/retrieve/pii/S2211124720314558},
	doi = {10.1016/j.celrep.2020.108466},
	language = {en},
	number = {9},
	urldate = {2023-03-04},
	journal = {Cell Reports},
	author = {Marselli, Lorella and Piron, Anthony and Suleiman, Mara and Colli, Maikel L. and Yi, Xiaoyan and Khamis, Amna and Carrat, Gaelle R. and Rutter, Guy A. and Bugliani, Marco and Giusti, Laura and Ronci, Maurizio and Ibberson, Mark and Turatsinze, Jean-Valery and Boggi, Ugo and De Simone, Paolo and De Tata, Vincenzo and Lopes, Miguel and Nasteska, Daniela and De Luca, Carmela and Tesi, Marta and Bosi, Emanuele and Singh, Pratibha and Campani, Daniela and Schulte, Anke M. and Solimena, Michele and Hecht, Peter and Rady, Brian and Bakaj, Ivona and Pocai, Alessandro and Norquay, Lisa and Thorens, Bernard and Canouil, Mickaël and Froguel, Philippe and Eizirik, Decio L. and Cnop, Miriam and Marchetti, Piero},
	month = dec,
	year = {2020},
	pages = {108466},
}

@article{vaxillaire_monogenic_2021,
	title = {Monogenic diabetes characteristics in a transnational multicenter study from {Mediterranean} countries},
	volume = {171},
	issn = {01688227},
	url = {https://linkinghub.elsevier.com/retrieve/pii/S016882272030810X},
	doi = {10.1016/j.diabres.2020.108553},
	language = {en},
	urldate = {2023-03-04},
	journal = {Diabetes Research and Clinical Practice},
	author = {Vaxillaire, Martine and Bonnefond, Amélie and Liatis, Stavros and Ben Salem Hachmi, Leila and Jotic, Aleksandra and Boissel, Mathilde and Gaget, Stefan and Durand, Emmanuelle and Vaillant, Emmanuel and Derhourhi, Mehdi and Canouil, Mickaël and Larcher, Nicolas and Allegaert, Frédéric and Medlej, Rita and Chadli, Asma and Belhadj, Azzedine and Chaieb, Molka and Raposo, Joao-Felipe and Ilkova, Hasan and Loizou, Doros and Lalic, Nebojsa and Vassallo, Josanne and Marre, Michel and Froguel, Philippe},
	month = jan,
	year = {2021},
	pages = {108553},
}

@article{bonnefond_pathogenic_2020,
	title = {Pathogenic variants in actionable {MODY} genes are associated with type 2 diabetes},
	volume = {2},
	issn = {2522-5812},
	url = {https://www.nature.com/articles/s42255-020-00294-3},
	doi = {10.1038/s42255-020-00294-3},
	language = {en},
	number = {10},
	urldate = {2023-03-04},
	journal = {Nature Metabolism},
	author = {Bonnefond, Amélie and Boissel, Mathilde and Bolze, Alexandre and Durand, Emmanuelle and Toussaint, Bénédicte and Vaillant, Emmanuel and Gaget, Stefan and Graeve, Franck De and Dechaume, Aurélie and Allegaert, Frédéric and Guilcher, David Le and Yengo, Loïc and Dhennin, Véronique and Borys, Jean-Michel and Lu, James T. and Cirulli, Elizabeth T. and Elhanan, Gai and Roussel, Ronan and Balkau, Beverley and Marre, Michel and Franc, Sylvia and Charpentier, Guillaume and Vaxillaire, Martine and Canouil, Mickaël and Washington, Nicole L. and Grzymski, Joseph J. and Froguel, Philippe},
	month = oct,
	year = {2020},
	pages = {1126--1134},
}

@article{khamis_histone_2020,
	title = {Histone deacetylase 9 promoter hypomethylation associated with adipocyte dysfunction is a statin-related metabolic effect},
	volume = {12},
	issn = {1868-7075, 1868-7083},
	url = {https://clinicalepigeneticsjournal.biomedcentral.com/articles/10.1186/s13148-020-00858-w},
	doi = {10.1186/s13148-020-00858-w},
	abstract = {Abstract
            
              Background
              Adipogenesis, the process whereby preadipocytes differentiate into mature adipocytes, is crucial for maintaining metabolic homeostasis. Cholesterol-lowering statins increase type 2 diabetes (T2D) risk possibly by affecting adipogenesis and insulin resistance but the (epi)genetic mechanisms involved are unknown. Here, we characterised the effects of statin treatment on adipocyte differentiation using in vitro human preadipocyte cell model to identify putative effective genes.
            
            
              Results
              
                Statin treatment during adipocyte differentiation caused a reduction in key genes involved in adipogenesis, such as
                ADIPOQ
                ,
                GLUT4
                and
                ABCG1.
                Using Illumina’s Infinium ‘850K’ Methylation EPIC array, we found a significant hypomethylation of cg14566882, located in the promoter of the histone deacetylase 9 (
                HDAC9)
                gene, in response to two types of statins (atorvastatin and mevastatin), which correlates with an increased
                HDAC9
                mRNA expression. We confirmed that HDAC9 is a transcriptional repressor of the cholesterol efflux
                ABCG1
                gene expression, which is epigenetically modified in obesity and prediabetic states. Thus, we assessed the putative impact of
                ABCG1
                knockdown in mimicking the effect of statin in adipogenesis.
                ABCG1
                KD reduced the expression of key genes involved in adipocyte differentiation and decreased insulin signalling and glucose uptake. In human blood cells from two cohorts,
                ABCG1
                expression was impaired in response to statins, confirming that
                ABCG1
                is targeted in vivo by these drugs.
              
            
            
              Conclusions
              We identified an epigenetic link between adipogenesis and adipose tissue insulin resistance in the context of T2D risk associated with statin use, which has important implications as HDAC9 and ABCG1 are considered potential therapeutic targets for obesity and metabolic diseases.},
	language = {en},
	number = {1},
	urldate = {2023-03-04},
	journal = {Clinical Epigenetics},
	author = {Khamis, Amna and Boutry, Raphael and Canouil, Mickaël and Mathew, Sumi and Lobbens, Stephane and Crouch, Hutokshi and Andrew, Toby and Abderrahmani, Amar and Tamanini, Filippo and Froguel, Philippe},
	month = dec,
	year = {2020},
	pages = {68},
}

@article{de_las_fuentes_gene-educational_2021,
	title = {Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci},
	volume = {26},
	issn = {1359-4184, 1476-5578},
	url = {https://www.nature.com/articles/s41380-020-0719-3},
	doi = {10.1038/s41380-020-0719-3},
	language = {en},
	number = {6},
	urldate = {2023-03-04},
	journal = {Molecular Psychiatry},
	author = {de las Fuentes, Lisa and Sung, Yun Ju and Noordam, Raymond and Winkler, Thomas and Feitosa, Mary F. and Schwander, Karen and Bentley, Amy R. and Brown, Michael R. and Guo, Xiuqing and Manning, Alisa and Chasman, Daniel I. and Aschard, Hugues and Bartz, Traci M. and Bielak, Lawrence F. and Campbell, Archie and Cheng, Ching-Yu and Dorajoo, Rajkumar and Hartwig, Fernando P. and Horimoto, A. R. V. R. and Li, Changwei and Li-Gao, Ruifang and Liu, Yongmei and Marten, Jonathan and Musani, Solomon K. and Ntalla, Ioanna and Rankinen, Tuomo and Richard, Melissa and Sim, Xueling and Smith, Albert V. and Tajuddin, Salman M. and Tayo, Bamidele O. and Vojinovic, Dina and Warren, Helen R. and Xuan, Deng and Alver, Maris and Boissel, Mathilde and Chai, Jin-Fang and Chen, Xu and Christensen, Kaare and Divers, Jasmin and Evangelou, Evangelos and Gao, Chuan and Girotto, Giorgia and Harris, Sarah E. and He, Meian and Hsu, Fang-Chi and Kühnel, Brigitte and Laguzzi, Federica and Li, Xiaoyin and Lyytikäinen, Leo-Pekka and Nolte, Ilja M. and Poveda, Alaitz and Rauramaa, Rainer and Riaz, Muhammad and Rueedi, Rico and Shu, Xiao-ou and Snieder, Harold and Sofer, Tamar and Takeuchi, Fumihiko and Verweij, Niek and Ware, Erin B. and Weiss, Stefan and Yanek, Lisa R. and Amin, Najaf and Arking, Dan E. and Arnett, Donna K. and Bergmann, Sven and Boerwinkle, Eric and Brody, Jennifer A. and Broeckel, Ulrich and Brumat, Marco and Burke, Gregory and Cabrera, Claudia P. and Canouil, Mickaël and Chee, Miao Li and Chen, Yii-Der Ida and Cocca, Massimiliano and Connell, John and de Silva, H. Janaka and de Vries, Paul S. and Eiriksdottir, Gudny and Faul, Jessica D. and Fisher, Virginia and Forrester, Terrence and Fox, Ervin F. and Friedlander, Yechiel and Gao, He and Gigante, Bruna and Giulianini, Franco and Gu, Chi Charles and Gu, Dongfeng and Harris, Tamara B. and He, Jiang and Heikkinen, Sami and Heng, Chew-Kiat and Hunt, Steven and Ikram, M. Arfan and Irvin, Marguerite R. and Kähönen, Mika and Kavousi, Maryam and Khor, Chiea Chuen and Kilpeläinen, Tuomas O. and Koh, Woon-Puay and Komulainen, Pirjo and Kraja, Aldi T. and Krieger, J. E. and Langefeld, Carl D. and Li, Yize and Liang, Jingjing and Liewald, David C. M. and Liu, Ching-Ti and Liu, Jianjun and Lohman, Kurt K. and Mägi, Reedik and McKenzie, Colin A. and Meitinger, Thomas and Metspalu, Andres and Milaneschi, Yuri and Milani, Lili and Mook-Kanamori, Dennis O. and Nalls, Mike A. and Nelson, Christopher P. and Norris, Jill M. and O’Connell, Jeff and Ogunniyi, Adesola and Padmanabhan, Sandosh and Palmer, Nicholette D. and Pedersen, Nancy L. and Perls, Thomas and Peters, Annette and Petersmann, Astrid and Peyser, Patricia A. and Polasek, Ozren and Porteous, David J. and Raffel, Leslie J. and Rice, Treva K. and Rotter, Jerome I. and Rudan, Igor and Rueda-Ochoa, Oscar-Leonel and Sabanayagam, Charumathi and Salako, Babatunde L. and Schreiner, Pamela J. and Shikany, James M. and Sidney, Stephen S. and Sims, Mario and Sitlani, Colleen M. and Smith, Jennifer A. and Starr, John M. and Strauch, Konstantin and Swertz, Morris A. and Teumer, Alexander and Tham, Yih Chung and Uitterlinden, André G. and Vaidya, Dhananjay and van der Ende, M. Yldau and Waldenberger, Melanie and Wang, Lihua and Wang, Ya-Xing and Wei, Wen-Bin and Weir, David R. and Wen, Wanqing and Yao, Jie and Yu, Bing and Yu, Caizheng and Yuan, Jian-Min and Zhao, Wei and Zonderman, Alan B. and Becker, Diane M. and Bowden, Donald W. and Deary, Ian J. and Dörr, Marcus and Esko, Tõnu and Freedman, Barry I. and Froguel, Philippe and Gasparini, Paolo and Gieger, Christian and Jonas, Jost Bruno and Kammerer, Candace M. and Kato, Norihiro and Lakka, Timo A. and Leander, Karin and Lehtimäki, Terho and {Lifelines Cohort Study} and Magnusson, Patrik K. E. and Marques-Vidal, Pedro and Penninx, Brenda W. J. H. and Samani, Nilesh J. and van der Harst, Pim and Wagenknecht, Lynne E. and Wu, Tangchun and Zheng, Wei and Zhu, Xiaofeng and Bouchard, Claude and Cooper, Richard S. and Correa, Adolfo and Evans, Michele K. and Gudnason, Vilmundur and Hayward, Caroline and Horta, Bernardo L. and Kelly, Tanika N. and Kritchevsky, Stephen B. and Levy, Daniel and Palmas, Walter R. and Pereira, A. C. and Province, Michael M. and Psaty, Bruce M. and Ridker, Paul M. and Rotimi, Charles N. and Tai, E. Shyong and van Dam, Rob M. and van Duijn, Cornelia M. and Wong, Tien Yin and Rice, Kenneth and Gauderman, W. James and Morrison, Alanna C. and North, Kari E. and Kardia, Sharon L. R. and Caulfield, Mark J. and Elliott, Paul and Munroe, Patricia B. and Franks, Paul W. and Rao, Dabeeru C. and Fornage, Myriam},
	month = jun,
	year = {2021},
	pages = {2111--2125},
}

@article{gloaguen_general_2020,
	title = {General regression model: {A} “model‐free” association test for quantitative traits allowing to test for the underlying genetic model},
	volume = {84},
	issn = {0003-4800, 1469-1809},
	shorttitle = {General regression model},
	url = {https://onlinelibrary.wiley.com/doi/10.1111/ahg.12372},
	doi = {10.1111/ahg.12372},
	language = {en},
	number = {3},
	urldate = {2023-03-04},
	journal = {Annals of Human Genetics},
	author = {Gloaguen, Emilie and Dizier, Marie‐Hélène and Boissel, Mathilde and Rocheleau, Ghislain and Canouil, Mickaël and Froguel, Philippe and Tichet, Jean and Roussel, Ronan and {The D.E.S.I.R. Study Group} and Julier, Cécile and Balkau, Beverley and Mathieu, Flavie},
	month = may,
	year = {2020},
	pages = {280--290},
}

@article{baron_loss--function_2019,
	title = {Loss-of-function mutations in {MRAP2} are pathogenic in hyperphagic obesity with hyperglycemia and hypertension},
	volume = {25},
	issn = {1078-8956, 1546-170X},
	url = {http://www.nature.com/articles/s41591-019-0622-0},
	doi = {10.1038/s41591-019-0622-0},
	language = {en},
	number = {11},
	urldate = {2023-03-04},
	journal = {Nature Medicine},
	author = {Baron, Morgane and Maillet, Julie and Huyvaert, Marlène and Dechaume, Aurélie and Boutry, Raphaël and Loiselle, Hélène and Durand, Emmanuelle and Toussaint, Bénédicte and Vaillant, Emmanuel and Philippe, Julien and Thomas, Jérémy and Ghulam, Amjad and Franc, Sylvia and Charpentier, Guillaume and Borys, Jean-Michel and Lévy-Marchal, Claire and Tauber, Maïthé and Scharfmann, Raphaël and Weill, Jacques and Aubert, Cécile and Kerr-Conte, Julie and Pattou, François and Roussel, Ronan and Balkau, Beverley and Marre, Michel and Boissel, Mathilde and Derhourhi, Mehdi and Gaget, Stefan and Canouil, Mickaël and Froguel, Philippe and Bonnefond, Amélie},
	month = nov,
	year = {2019},
	pages = {1733--1738},
}

@article{canouil_nacho_2020,
	title = {\textit{{NACHO}:} an {R} package for quality control of {NanoString} {nCounter} data},
	volume = {36},
	issn = {1367-4803, 1367-4811},
	shorttitle = {{\textless}i{\textgreater}{NACHO}},
	url = {https://academic.oup.com/bioinformatics/article/36/3/970/5553566},
	doi = {10.1093/bioinformatics/btz647},
	abstract = {Abstract
            
              Summary
              The NanoStringTM nCounter® is a platform for the targeted quantification of expression data in biofluids and tissues. While software by the manufacturer is available in addition to third parties packages, they do not provide a complete quality control (QC) pipeline. Here, we present NACHO (‘NAnostring quality Control dasHbOard’), a comprehensive QC R-package. The package consists of three subsequent steps: summarize, visualize and normalize. The summarize function collects all the relevant data and stores it in a tidy format, the visualize function initiates a dashboard with plots of the relevant QC outcomes. It contains QC metrics that are measured by default by the manufacturer, but also calculates other insightful measures, including the scaling factors that are needed in the normalization step. In this normalization step, different normalization methods can be chosen to optimally preprocess data. Together, NACHO is a comprehensive method that optimizes insight and preprocessing of nCounter® data.
            
            
              Availability and implementation
              NACHO is available as an R-package on CRAN and the development version on GitHub https://github.com/mcanouil/NACHO.
            
            
              Supplementary information
              Supplementary data are available at Bioinformatics online.},
	language = {en},
	number = {3},
	urldate = {2023-03-04},
	journal = {Bioinformatics},
	author = {Canouil, Mickaël and Bouland, Gerard A and Bonnefond, Amélie and Froguel, Philippe and ’t Hart, Leen M and Slieker, Roderick C},
	editor = {Wren, Jonathan},
	month = feb,
	year = {2020},
	pages = {970--971},
	annote = {first
},
}

@article{ndiaye_expression_2020,
	title = {The expression of genes in top obesity-associated loci is enriched in insula and substantia nigra brain regions involved in addiction and reward},
	volume = {44},
	issn = {0307-0565, 1476-5497},
	url = {http://www.nature.com/articles/s41366-019-0428-7},
	doi = {10.1038/s41366-019-0428-7},
	language = {en},
	number = {2},
	urldate = {2023-03-04},
	journal = {International Journal of Obesity},
	author = {Ndiaye, Fatou K. and Huyvaert, Marlène and Ortalli, Ana and Canouil, Mickaël and Lecoeur, Cécile and Verbanck, Marie and Lobbens, Stéphane and Khamis, Amna and Marselli, Lorella and Marchetti, Piero and Kerr-Conte, Julie and Pattou, François and Marre, Michel and Roussel, Ronan and Balkau, Beverley and Froguel, Philippe and Bonnefond, Amélie},
	month = feb,
	year = {2020},
	pages = {539--543},
}

@article{bradfield_trans-ancestral_2019,
	title = {A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity},
	volume = {28},
	issn = {0964-6906, 1460-2083},
	url = {https://academic.oup.com/hmg/article/28/19/3327/5528371},
	doi = {10.1093/hmg/ddz161},
	abstract = {Abstract
            Although hundreds of genome-wide association studies-implicated loci have been reported for adult obesity-related traits, less is known about the genetics specific for early-onset obesity and with only a few studies conducted in non-European populations to date. Searching for additional genetic variants associated with childhood obesity, we performed a trans-ancestral meta-analysis of 30 studies consisting of up to 13 005 cases (≥95th percentile of body mass index (BMI) achieved 2–18 years old) and 15 599 controls (consistently \<50th percentile of BMI) of European, African, North/South American and East Asian ancestry. Suggestive loci were taken forward for replication in a sample of 1888 cases and 4689 controls from seven cohorts of European and North/South American ancestry. In addition to observing 18 previously implicated BMI or obesity loci, for both early and late onset, we uncovered one completely novel locus in this trans-ancestral analysis (nearest gene, METTL15). The variant was nominally associated with only the European subgroup analysis but had a consistent direction of effect in other ethnicities. We then utilized trans-ancestral Bayesian analysis to narrow down the location of the probable causal variant at each genome-wide significant signal. Of all the fine-mapped loci, we were able to narrow down the causative variant at four known loci to fewer than 10 single nucleotide polymorphisms (SNPs) (FAIM2, GNPDA2, MC4R and SEC16B loci). In conclusion, an ethnically diverse setting has enabled us to both identify an additional pediatric obesity locus and further fine-map existing loci.},
	language = {en},
	number = {19},
	urldate = {2023-03-04},
	journal = {Human Molecular Genetics},
	author = {Bradfield, Jonathan P and Vogelezang, Suzanne and Felix, Janine F and Chesi, Alessandra and Helgeland, Øyvind and Horikoshi, Momoko and Karhunen, Ville and Lowry, Estelle and Cousminer, Diana L and Ahluwalia, Tarunveer S and Thiering, Elisabeth and Boh, Eileen Tai-Hui and Zafarmand, Mohammad H and Vilor-Tejedor, Natalia and Wang, Carol A and Joro, Raimo and Chen, Zhanghua and Gauderman, William J and Pitkänen, Niina and Parra, Esteban J and Fernandez-Rhodes, Lindsay and Alyass, Akram and Monnereau, Claire and Curtin, John A and Have, Christian T and McCormack, Shana E and Hollensted, Mette and Frithioff-Bøjsøe, Christine and Valladares-Salgado, Adan and Peralta-Romero, Jesus and Teo, Yik-Ying and Standl, Marie and Leinonen, Jaakko T and Holm, Jens-Christian and Peters, Triinu and Vioque, Jesus and Vrijheid, Martine and Simpson, Angela and Custovic, Adnan and Vaudel, Marc and Canouil, Mickaël and Lindi, Virpi and Atalay, Mustafa and Kähönen, Mika and Raitakari, Olli T and van Schaik, Barbera D C and Berkowitz, Robert I and Cole, Shelley A and Voruganti, V Saroja and Wang, Yujie and Highland, Heather M and Comuzzie, Anthony G and Butte, Nancy F and Justice, Anne E and Gahagan, Sheila and Blanco, Estela and Lehtimäki, Terho and Lakka, Timo A and Hebebrand, Johannes and Bonnefond, Amélie and Grarup, Niels and Froguel, Philippe and Lyytikäinen, Leo-Pekka and Cruz, Miguel and Kobes, Sayuko and Hanson, Robert L and Zemel, Babette S and Hinney, Anke and Teo, Koon K and Meyre, David and North, Kari E and Gilliland, Frank D and Bisgaard, Hans and Bustamante, Mariona and Bonnelykke, Klaus and Pennell, Craig E and Rivadeneira, Fernando and Uitterlinden, André G and Baier, Leslie J and Vrijkotte, Tanja G M and Heinrich, Joachim and Sørensen, Thorkild I A and Saw, Seang-Mei and Pedersen, Oluf and Hansen, Torben and Eriksson, Johan and Widén, Elisabeth and McCarthy, Mark I and Njølstad, Pål R and Power, Christine and Hyppönen, Elina and Sebert, Sylvain and Brown, Christopher D and Järvelin, Marjo-Riitta and Timpson, Nicholas J and Johansson, Stefan and Hakonarson, Hakon and Jaddoe, Vincent W V and {Struan F A Grant for the Early Growth Genetics Consortium}},
	month = oct,
	year = {2019},
	pages = {3327--3338},
}

@article{liu_genome-wide_2019,
	title = {Genome-wide {Association} {Study} of {Change} in {Fasting} {Glucose} over time in 13,807 non-diabetic {European} {Ancestry} {Individuals}},
	volume = {9},
	issn = {2045-2322},
	url = {https://www.nature.com/articles/s41598-019-45823-7},
	doi = {10.1038/s41598-019-45823-7},
	abstract = {Abstract
            
              Type 2 diabetes (T2D) affects the health of millions of people worldwide. The identification of genetic determinants associated with changes in glycemia over time might illuminate biological features that precede the development of T2D. Here we conducted a genome-wide association study of longitudinal fasting glucose changes in up to 13,807 non-diabetic individuals of European descent from nine cohorts. Fasting glucose change over time was defined as the slope of the line defined by multiple fasting glucose measurements obtained over up to 14 years of observation. We tested for associations of genetic variants with inverse-normal transformed fasting glucose change over time adjusting for age at baseline, sex, and principal components of genetic variation. We found no genome-wide significant association (P {\textless} 5 × 10
              −8
              ) with fasting glucose change over time. Seven loci previously associated with T2D, fasting glucose or HbA1c were nominally (P {\textless} 0.05) associated with fasting glucose change over time. Limited power influences unambiguous interpretation, but these data suggest that genetic effects on fasting glucose change over time are likely to be small. A public version of the data provides a genomic resource to combine with future studies to evaluate shared genetic links with T2D and other metabolic risk traits.},
	language = {en},
	number = {1},
	urldate = {2023-03-04},
	journal = {Scientific Reports},
	author = {Liu, Ching-Ti and Merino, Jordi and Rybin, Denis and DiCorpo, Daniel and Benke, Kelly S. and Bragg-Gresham, Jennifer L. and Canouil, Mickaël and Corre, Tanguy and Grallert, Harald and Isaacs, Aaron and Kutalik, Zoltan and Lahti, Jari and Marullo, Letizia and Marzi, Carola and Rasmussen-Torvik, Laura J. and Rocheleau, Ghislain and Rueedi, Rico and Scapoli, Chiara and Verweij, Niek and Vogelzangs, Nicole and Willems, Sara M. and Yengo, Loïc and Bakker, Stephan J. L. and Beilby, John and Hui, Jennie and Kajantie, Eero and Müller-Nurasyid, Martina and Rathmann, Wolfgang and Balkau, Beverley and Bergmann, Sven and Eriksson, Johan G. and Florez, Jose C. and Froguel, Philippe and Harris, Tamara and Hung, Joseph and James, Alan L. and Kavousi, Maryam and Miljkovic, Iva and Musk, Arthur W. and Palmer, Lyle J. and Peters, Annette and Roussel, Ronan and van der harst, Pim and van Duijn, Cornelia M. and Vollenweider, Peter and Barroso, Inês and Prokopenko, Inga and Dupuis, Josée and Meigs, James B. and Bouatia-Naji, Nabila},
	month = jul,
	year = {2019},
	pages = {9439},
}

@article{sung_multi-ancestry_2019,
	title = {A multi-ancestry genome-wide study incorporating gene–smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure},
	volume = {28},
	issn = {0964-6906, 1460-2083},
	url = {https://academic.oup.com/hmg/article/28/15/2615/5439584},
	doi = {10.1093/hmg/ddz070},
	abstract = {Abstract
            Elevated blood pressure (BP), a leading cause of global morbidity and mortality, is influenced by both genetic and lifestyle factors. Cigarette smoking is one such lifestyle factor. Across five ancestries, we performed a genome-wide gene–smoking interaction study of mean arterial pressure (MAP) and pulse pressure (PP) in 129 913 individuals in stage 1 and follow-up analysis in 480 178 additional individuals in stage 2. We report here 136 loci significantly associated with MAP and/or PP. Of these, 61 were previously published through main-effect analysis of BP traits, 37 were recently reported by us for systolic BP and/or diastolic BP through gene–smoking interaction analysis and 38 were newly identified (P {\textless} 5 × 10−8, false discovery rate {\textless} 0.05). We also identified nine new signals near known loci. Of the 136 loci, 8 showed significant interaction with smoking status. They include CSMD1 previously reported for insulin resistance and BP in the spontaneously hypertensive rats. Many of the 38 new loci show biologic plausibility for a role in BP regulation. SLC26A7 encodes a chloride/bicarbonate exchanger expressed in the renal outer medullary collecting duct. AVPR1A is widely expressed, including in vascular smooth muscle cells, kidney, myocardium and brain. FHAD1 is a long non-coding RNA overexpressed in heart failure. TMEM51 was associated with contractile function in cardiomyocytes. CASP9 plays a central role in cardiomyocyte apoptosis. Identified only in African ancestry were 30 novel loci. Our findings highlight the value of multi-ancestry investigations, particularly in studies of interaction with lifestyle factors, where genomic and lifestyle differences may contribute to novel findings.},
	language = {en},
	number = {15},
	urldate = {2023-03-04},
	journal = {Human Molecular Genetics},
	author = {Sung, Yun Ju and de las Fuentes, Lisa and Winkler, Thomas W and Chasman, Daniel I and Bentley, Amy R and Kraja, Aldi T and Ntalla, Ioanna and Warren, Helen R and Guo, Xiuqing and Schwander, Karen and Manning, Alisa K and Brown, Michael R and Aschard, Hugues and Feitosa, Mary F and Franceschini, Nora and Lu, Yingchang and Cheng, Ching-Yu and Sim, Xueling and Vojinovic, Dina and Marten, Jonathan and Musani, Solomon K and Kilpeläinen, Tuomas O and Richard, Melissa A and Aslibekyan, Stella and Bartz, Traci M and Dorajoo, Rajkumar and Li, Changwei and Liu, Yongmei and Rankinen, Tuomo and Smith, Albert Vernon and Tajuddin, Salman M and Tayo, Bamidele O and Zhao, Wei and Zhou, Yanhua and Matoba, Nana and Sofer, Tamar and Alver, Maris and Amini, Marzyeh and Boissel, Mathilde and Chai, Jin Fang and Chen, Xu and Divers, Jasmin and Gandin, Ilaria and Gao, Chuan and Giulianini, Franco and Goel, Anuj and Harris, Sarah E and Hartwig, Fernando P and He, Meian and Horimoto, Andrea R V R and Hsu, Fang-Chi and Jackson, Anne U and Kammerer, Candace M and Kasturiratne, Anuradhani and Komulainen, Pirjo and Kühnel, Brigitte and Leander, Karin and Lee, Wen-Jane and Lin, Keng-Hung and Luan, Jian’an and Lyytikäinen, Leo-Pekka and McKenzie, Colin A and Nelson, Christopher P and Noordam, Raymond and Scott, Robert A and Sheu, Wayne H H and Stančáková, Alena and Takeuchi, Fumihiko and van der Most, Peter J and Varga, Tibor V and Waken, Robert J and Wang, Heming and Wang, Yajuan and Ware, Erin B and Weiss, Stefan and Wen, Wanqing and Yanek, Lisa R and Zhang, Weihua and Zhao, Jing Hua and Afaq, Saima and Alfred, Tamuno and Amin, Najaf and Arking, Dan E and Aung, Tin and Barr, R Graham and Bielak, Lawrence F and Boerwinkle, Eric and Bottinger, Erwin P and Braund, Peter S and Brody, Jennifer A and Broeckel, Ulrich and Cade, Brian and Campbell, Archie and Canouil, Mickaël and Chakravarti, Aravinda and Cocca, Massimiliano and Collins, Francis S and Connell, John M and de Mutsert, Renée and de Silva, H Janaka and Dörr, Marcus and Duan, Qing and Eaton, Charles B and Ehret, Georg and Evangelou, Evangelos and Faul, Jessica D and Forouhi, Nita G and Franco, Oscar H and Friedlander, Yechiel and Gao, He and Gigante, Bruna and Gu, C Charles and Gupta, Preeti and Hagenaars, Saskia P and Harris, Tamara B and He, Jiang and Heikkinen, Sami and Heng, Chew-Kiat and Hofman, Albert and Howard, Barbara V and Hunt, Steven C and Irvin, Marguerite R and Jia, Yucheng and Katsuya, Tomohiro and Kaufman, Joel and Kerrison, Nicola D and Khor, Chiea Chuen and Koh, Woon-Puay and Koistinen, Heikki A and Kooperberg, Charles B and Krieger, Jose E and Kubo, Michiaki and Kutalik, Zoltan and Kuusisto, Johanna and Lakka, Timo A and Langefeld, Carl D and Langenberg, Claudia and Launer, Lenore J and Lee, Joseph H and Lehne, Benjamin and Levy, Daniel and Lewis, Cora E and Li, Yize and {Lifelines Cohort Study} and Lim, Sing Hui and Liu, Ching-Ti and Liu, Jianjun and Liu, Jingmin and Liu, Yeheng and Loh, Marie and Lohman, Kurt K and Louie, Tin and Mägi, Reedik and Matsuda, Koichi and Meitinger, Thomas and Metspalu, Andres and Milani, Lili and Momozawa, Yukihide and Mosley, Jr, Thomas H and Nalls, Mike A and Nasri, Ubaydah and O'Connell, Jeff R and Ogunniyi, Adesola and Palmas, Walter R and Palmer, Nicholette D and Pankow, James S and Pedersen, Nancy L and Peters, Annette and Peyser, Patricia A and Polasek, Ozren and Porteous, David and Raitakari, Olli T and Renström, Frida and Rice, Treva K and Ridker, Paul M and Robino, Antonietta and Robinson, Jennifer G and Rose, Lynda M and Rudan, Igor and Sabanayagam, Charumathi and Salako, Babatunde L and Sandow, Kevin and Schmidt, Carsten O and Schreiner, Pamela J and Scott, William R and Sever, Peter and Sims, Mario and Sitlani, Colleen M and Smith, Blair H and Smith, Jennifer A and Snieder, Harold and Starr, John M and Strauch, Konstantin and Tang, Hua and Taylor, Kent D and Teo, Yik Ying and Tham, Yih Chung and Uitterlinden, André G and Waldenberger, Melanie and Wang, Lihua and Wang, Ya Xing and Wei, Wen Bin and Wilson, Gregory and Wojczynski, Mary K and Xiang, Yong-Bing and Yao, Jie and Yuan, Jian-Min and Zonderman, Alan B and Becker, Diane M and Boehnke, Michael and Bowden, Donald W and Chambers, John C and Chen, Yii-Der Ida and Weir, David R and de Faire, Ulf and Deary, Ian J and Esko, Tõnu and Farrall, Martin and Forrester, Terrence and Freedman, Barry I and Froguel, Philippe and Gasparini, Paolo and Gieger, Christian and Horta, Bernardo Lessa and Hung, Yi-Jen and Jonas, Jost Bruno and Kato, Norihiro and Kooner, Jaspal S and Laakso, Markku and Lehtimäki, Terho and Liang, Kae-Woei and Magnusson, Patrik K E and Oldehinkel, Albertine J and Pereira, Alexandre C and Perls, Thomas and Rauramaa, Rainer and Redline, Susan and Rettig, Rainer and Samani, Nilesh J and Scott, James and Shu, Xiao-Ou and van der Harst, Pim and Wagenknecht, Lynne E and Wareham, Nicholas J and Watkins, Hugh and Wickremasinghe, Ananda R and Wu, Tangchun and Kamatani, Yoichiro and Laurie, Cathy C and Bouchard, Claude and Cooper, Richard S and Evans, Michele K and Gudnason, Vilmundur and Hixson, James and Kardia, Sharon L R and Kritchevsky, Stephen B and Psaty, Bruce M and van Dam, Rob M and Arnett, Donna K and Mook-Kanamori, Dennis O and Fornage, Myriam and Fox, Ervin R and Hayward, Caroline and van Duijn, Cornelia M and Tai, E Shyong and Wong, Tien Yin and Loos, Ruth J F and Reiner, Alex P and Rotimi, Charles N and Bierut, Laura J and Zhu, Xiaofeng and Cupples, L Adrienne and Province, Michael A and Rotter, Jerome I and Franks, Paul W and Rice, Kenneth and Elliott, Paul and Caulfield, Mark J and Gauderman, W James and Munroe, Patricia B and Rao, Dabeeru C and Morrison, Alanna C},
	month = aug,
	year = {2019},
	pages = {2615--2633},
}

@article{cogent-kidney_consortium_multi-ancestry_2019,
	title = {Multi-ancestry genome-wide gene–smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids},
	volume = {51},
	issn = {1061-4036, 1546-1718},
	url = {http://www.nature.com/articles/s41588-019-0378-y},
	doi = {10.1038/s41588-019-0378-y},
	language = {en},
	number = {4},
	urldate = {2023-03-04},
	journal = {Nature Genetics},
	author = {{COGENT-Kidney Consortium} and {EPIC-InterAct Consortium} and {Understanding Society Scientific Group} and {Lifelines Cohort} and Bentley, Amy R. and Sung, Yun J. and Brown, Michael R. and Winkler, Thomas W. and Kraja, Aldi T. and Ntalla, Ioanna and Schwander, Karen and Chasman, Daniel I. and Lim, Elise and Deng, Xuan and Guo, Xiuqing and Liu, Jingmin and Lu, Yingchang and Cheng, Ching-Yu and Sim, Xueling and Vojinovic, Dina and Huffman, Jennifer E. and Musani, Solomon K. and Li, Changwei and Feitosa, Mary F. and Richard, Melissa A. and Noordam, Raymond and Baker, Jenna and Chen, Guanjie and Aschard, Hugues and Bartz, Traci M. and Ding, Jingzhong and Dorajoo, Rajkumar and Manning, Alisa K. and Rankinen, Tuomo and Smith, Albert V. and Tajuddin, Salman M. and Zhao, Wei and Graff, Mariaelisa and Alver, Maris and Boissel, Mathilde and Chai, Jin Fang and Chen, Xu and Divers, Jasmin and Evangelou, Evangelos and Gao, Chuan and Goel, Anuj and Hagemeijer, Yanick and Harris, Sarah E. and Hartwig, Fernando P. and He, Meian and Horimoto, Andrea R. V. R. and Hsu, Fang-Chi and Hung, Yi-Jen and Jackson, Anne U. and Kasturiratne, Anuradhani and Komulainen, Pirjo and Kühnel, Brigitte and Leander, Karin and Lin, Keng-Hung and Luan, Jian’an and Lyytikäinen, Leo-Pekka and Matoba, Nana and Nolte, Ilja M. and Pietzner, Maik and Prins, Bram and Riaz, Muhammad and Robino, Antonietta and Said, M. Abdullah and Schupf, Nicole and Scott, Robert A. and Sofer, Tamar and Stancáková, Alena and Takeuchi, Fumihiko and Tayo, Bamidele O. and van der Most, Peter J. and Varga, Tibor V. and Wang, Tzung-Dau and Wang, Yajuan and Ware, Erin B. and Wen, Wanqing and Xiang, Yong-Bing and Yanek, Lisa R. and Zhang, Weihua and Zhao, Jing Hua and Adeyemo, Adebowale and Afaq, Saima and Amin, Najaf and Amini, Marzyeh and Arking, Dan E. and Arzumanyan, Zorayr and Aung, Tin and Ballantyne, Christie and Barr, R. Graham and Bielak, Lawrence F. and Boerwinkle, Eric and Bottinger, Erwin P. and Broeckel, Ulrich and Brown, Morris and Cade, Brian E. and Campbell, Archie and Canouil, Mickaël and Charumathi, Sabanayagam and Chen, Yii-Der Ida and Christensen, Kaare and Concas, Maria Pina and Connell, John M. and de las Fuentes, Lisa and de Silva, H. Janaka and de Vries, Paul S. and Doumatey, Ayo and Duan, Qing and Eaton, Charles B. and Eppinga, Ruben N. and Faul, Jessica D. and Floyd, James S. and Forouhi, Nita G. and Forrester, Terrence and Friedlander, Yechiel and Gandin, Ilaria and Gao, He and Ghanbari, Mohsen and Gharib, Sina A. and Gigante, Bruna and Giulianini, Franco and Grabe, Hans J. and Gu, C. Charles and Harris, Tamara B. and Heikkinen, Sami and Heng, Chew-Kiat and Hirata, Makoto and Hixson, James E. and Ikram, M. Arfan and Jia, Yucheng and Joehanes, Roby and Johnson, Craig and Jonas, Jost Bruno and Justice, Anne E. and Katsuya, Tomohiro and Khor, Chiea Chuen and Kilpeläinen, Tuomas O. and Koh, Woon-Puay and Kolcic, Ivana and Kooperberg, Charles and Krieger, Jose E. and Kritchevsky, Stephen B. and Kubo, Michiaki and Kuusisto, Johanna and Lakka, Timo A. and Langefeld, Carl D. and Langenberg, Claudia and Launer, Lenore J. and Lehne, Benjamin and Lewis, Cora E. and Li, Yize and Liang, Jingjing and Lin, Shiow and Liu, Ching-Ti and Liu, Jianjun and Liu, Kiang and Loh, Marie and Lohman, Kurt K. and Louie, Tin and Luzzi, Anna and Mägi, Reedik and Mahajan, Anubha and Manichaikul, Ani W. and McKenzie, Colin A. and Meitinger, Thomas and Metspalu, Andres and Milaneschi, Yuri and Milani, Lili and Mohlke, Karen L. and Momozawa, Yukihide and Morris, Andrew P. and Murray, Alison D. and Nalls, Mike A. and Nauck, Matthias and Nelson, Christopher P. and North, Kari E. and O’Connell, Jeffrey R. and Palmer, Nicholette D. and Papanicolau, George J. and Pedersen, Nancy L. and Peters, Annette and Peyser, Patricia A. and Polasek, Ozren and Poulter, Neil and Raitakari, Olli T. and Reiner, Alex P. and Renström, Frida and Rice, Treva K. and Rich, Stephen S. and Robinson, Jennifer G. and Rose, Lynda M. and Rosendaal, Frits R. and Rudan, Igor and Schmidt, Carsten O. and Schreiner, Pamela J. and Scott, William R. and Sever, Peter and Shi, Yuan and Sidney, Stephen and Sims, Mario and Smith, Jennifer A. and Snieder, Harold and Starr, John M. and Strauch, Konstantin and Stringham, Heather M. and Tan, Nicholas Y. Q. and Tang, Hua and Taylor, Kent D. and Teo, Yik Ying and Tham, Yih Chung and Tiemeier, Henning and Turner, Stephen T. and Uitterlinden, André G. and van Heemst, Diana and Waldenberger, Melanie and Wang, Heming and Wang, Lan and Wang, Lihua and Wei, Wen Bin and Williams, Christine A. and Wilson, Gregory and Wojczynski, Mary K. and Yao, Jie and Young, Kristin and Yu, Caizheng and Yuan, Jian-Min and Zhou, Jie and Zonderman, Alan B. and Becker, Diane M. and Boehnke, Michael and Bowden, Donald W. and Chambers, John C. and Cooper, Richard S. and de Faire, Ulf and Deary, Ian J. and Elliott, Paul and Esko, Tõnu and Farrall, Martin and Franks, Paul W. and Freedman, Barry I. and Froguel, Philippe and Gasparini, Paolo and Gieger, Christian and Horta, Bernardo L. and Juang, Jyh-Ming Jimmy and Kamatani, Yoichiro and Kammerer, Candace M. and Kato, Norihiro and Kooner, Jaspal S. and Laakso, Markku and Laurie, Cathy C. and Lee, I-Te and Lehtimäki, Terho and Magnusson, Patrik K. E. and Oldehinkel, Albertine J. and Penninx, Brenda W. J. H. and Pereira, Alexandre C. and Rauramaa, Rainer and Redline, Susan and Samani, Nilesh J. and Scott, James and Shu, Xiao-Ou and van der Harst, Pim and Wagenknecht, Lynne E. and Wang, Jun-Sing and Wang, Ya Xing and Wareham, Nicholas J. and Watkins, Hugh and Weir, David R. and Wickremasinghe, Ananda R. and Wu, Tangchun and Zeggini, Eleftheria and Zheng, Wei and Bouchard, Claude and Evans, Michele K. and Gudnason, Vilmundur and Kardia, Sharon L. R. and Liu, Yongmei and Psaty, Bruce M. and Ridker, Paul M. and van Dam, Rob M. and Mook-Kanamori, Dennis O. and Fornage, Myriam and Province, Michael A. and Kelly, Tanika N. and Fox, Ervin R. and Hayward, Caroline and van Duijn, Cornelia M. and Tai, E. Shyong and Wong, Tien Yin and Loos, Ruth J. F. and Franceschini, Nora and Rotter, Jerome I. and Zhu, Xiaofeng and Bierut, Laura J. and Gauderman, W. James and Rice, Kenneth and Munroe, Patricia B. and Morrison, Alanna C. and Rao, Dabeeru C. and Rotimi, Charles N. and Cupples, L. Adrienne},
	month = apr,
	year = {2019},
	pages = {636--648},
}

@article{khamis_laser_2019,
	title = {Laser capture microdissection of human pancreatic islets reveals novel {eQTLs} associated with type 2 diabetes},
	volume = {24},
	issn = {22128778},
	url = {https://linkinghub.elsevier.com/retrieve/pii/S2212877819301309},
	doi = {10.1016/j.molmet.2019.03.004},
	language = {en},
	urldate = {2023-03-04},
	journal = {Molecular Metabolism},
	author = {Khamis, Amna and Canouil, Mickaël and Siddiq, Afshan and Crouch, Hutokshi and Falchi, Mario and Bulow, Manon von and Ehehalt, Florian and Marselli, Lorella and Distler, Marius and Richter, Daniela and Weitz, Jürgen and Bokvist, Krister and Xenarios, Ioannis and Thorens, Bernard and Schulte, Anke M. and Ibberson, Mark and Bonnefond, Amelie and Marchetti, Piero and Solimena, Michele and Froguel, Philippe},
	month = jun,
	year = {2019},
	pages = {98--107},
	annote = {first
},
}

@article{de_vries_multiancestry_2019,
	title = {Multiancestry {Genome}-{Wide} {Association} {Study} of {Lipid} {Levels} {Incorporating} {Gene}-{Alcohol} {Interactions}},
	volume = {188},
	issn = {0002-9262, 1476-6256},
	url = {https://academic.oup.com/aje/article/188/6/1033/5304469},
	doi = {10.1093/aje/kwz005},
	language = {en},
	number = {6},
	urldate = {2023-03-04},
	journal = {American Journal of Epidemiology},
	author = {de Vries, Paul S and Brown, Michael R and Bentley, Amy R and Sung, Yun J and Winkler, Thomas W and Ntalla, Ioanna and Schwander, Karen and Kraja, Aldi T and Guo, Xiuqing and Franceschini, Nora and Cheng, Ching-Yu and Sim, Xueling and Vojinovic, Dina and Huffman, Jennifer E and Musani, Solomon K and Li, Changwei and Feitosa, Mary F and Richard, Melissa A and Noordam, Raymond and Aschard, Hugues and Bartz, Traci M and Bielak, Lawrence F and Deng, Xuan and Dorajoo, Rajkumar and Lohman, Kurt K and Manning, Alisa K and Rankinen, Tuomo and Smith, Albert V and Tajuddin, Salman M and Evangelou, Evangelos and Graff, Mariaelisa and Alver, Maris and Boissel, Mathilde and Chai, Jin Fang and Chen, Xu and Divers, Jasmin and Gandin, Ilaria and Gao, Chuan and Goel, Anuj and Hagemeijer, Yanick and Harris, Sarah E and Hartwig, Fernando P and He, Meian and Horimoto, Andrea R V R and Hsu, Fang-Chi and Jackson, Anne U and Kasturiratne, Anuradhani and Komulainen, Pirjo and Kühnel, Brigitte and Laguzzi, Federica and Lee, Joseph H and Luan, Jian'an and Lyytikäinen, Leo-Pekka and Matoba, Nana and Nolte, Ilja M and Pietzner, Maik and Riaz, Muhammad and Said, M Abdullah and Scott, Robert A and Sofer, Tamar and Stančáková, Alena and Takeuchi, Fumihiko and Tayo, Bamidele O and van der Most, Peter J and Varga, Tibor V and Wang, Yajuan and Ware, Erin B and Wen, Wanqing and Yanek, Lisa R and Zhang, Weihua and Zhao, Jing Hua and Afaq, Saima and Amin, Najaf and Amini, Marzyeh and Arking, Dan E and Aung, Tin and Ballantyne, Christie and Boerwinkle, Eric and Broeckel, Ulrich and Campbell, Archie and Canouil, Mickaël and Charumathi, Sabanayagam and Chen, Yii-Der Ida and Connell, John M and de Faire, Ulf and de las Fuentes, Lisa and de Mutsert, Renée and de Silva, H Janaka and Ding, Jingzhong and Dominiczak, Anna F and Duan, Qing and Eaton, Charles B and Eppinga, Ruben N and Faul, Jessica D and Fisher, Virginia and Forrester, Terrence and Franco, Oscar H and Friedlander, Yechiel and Ghanbari, Mohsen and Giulianini, Franco and Grabe, Hans J and Grove, Megan L and Gu, C Charles and Harris, Tamara B and Heikkinen, Sami and Heng, Chew-Kiat and Hirata, Makoto and Hixson, James E and Howard, Barbara V and Ikram, M Arfan and {InterAct Consortium} and Jacobs, David R and Johnson, Craig and Jonas, Jost Bruno and Kammerer, Candace M and Katsuya, Tomohiro and Khor, Chiea Chuen and Kilpeläinen, Tuomas O and Koh, Woon-Puay and Koistinen, Heikki A and Kolcic, Ivana and Kooperberg, Charles and Krieger, Jose E and Kritchevsky, Steve B and Kubo, Michiaki and Kuusisto, Johanna and Lakka, Timo A and Langefeld, Carl D and Langenberg, Claudia and Launer, Lenore J and Lehne, Benjamin and Lemaitre, Rozenn N and Li, Yize and Liang, Jingjing and Liu, Jianjun and Liu, Kiang and Loh, Marie and Louie, Tin and Mägi, Reedik and Manichaikul, Ani W and McKenzie, Colin A and Meitinger, Thomas and Metspalu, Andres and Milaneschi, Yuri and Milani, Lili and Mohlke, Karen L and Mosley, Thomas H and Mukamal, Kenneth J and Nalls, Mike A and Nauck, Matthias and Nelson, Christopher P and Sotoodehnia, Nona and O'Connell, Jeff R and Palmer, Nicholette D and Pazoki, Raha and Pedersen, Nancy L and Peters, Annette and Peyser, Patricia A and Polasek, Ozren and Poulter, Neil and Raffel, Leslie J and Raitakari, Olli T and Reiner, Alex P and Rice, Treva K and Rich, Stephen S and Robino, Antonietta and Robinson, Jennifer G and Rose, Lynda M and Rudan, Igor and Schmidt, Carsten O and Schreiner, Pamela J and Scott, William R and Sever, Peter and Shi, Yuan and Sidney, Stephen and Sims, Mario and Smith, Blair H and Smith, Jennifer A and Snieder, Harold and Starr, John M and Strauch, Konstantin and Tan, Nicholas and Taylor, Kent D and Teo, Yik Ying and Tham, Yih Chung and Uitterlinden, André G and van Heemst, Diana and Vuckovic, Dragana and Waldenberger, Melanie and Wang, Lihua and Wang, Yujie and Wang, Zhe and Wei, Wen Bin and Williams, Christine and Wilson, Gregory and Wojczynski, Mary K and Yao, Jie and Yu, Bing and Yu, Caizheng and Yuan, Jian-Min and Zhao, Wei and Zonderman, Alan B and Becker, Diane M and Boehnke, Michael and Bowden, Donald W and Chambers, John C and Deary, Ian J and Esko, Tõnu and Farrall, Martin and Franks, Paul W and Freedman, Barry I and Froguel, Philippe and Gasparini, Paolo and Gieger, Christian and Horta, Bernardo L and Kamatani, Yoichiro and Kato, Norihiro and Kooner, Jaspal S and Laakso, Markku and Leander, Karin and Lehtimäki, Terho and {Lifelines Cohort, Groningen, The Netherlands (Lifelines Cohort Study)} and Magnusson, Patrik K E and Penninx, Brenda and Pereira, Alexandre C and Rauramaa, Rainer and Samani, Nilesh J and Scott, James and Shu, Xiao-Ou and van der Harst, Pim and Wagenknecht, Lynne E and Wang, Ya Xing and Wareham, Nicholas J and Watkins, Hugh and Weir, David R and Wickremasinghe, Ananda R and Zheng, Wei and Elliott, Paul and North, Kari E and Bouchard, Claude and Evans, Michele K and Gudnason, Vilmundur and Liu, Ching-Ti and Liu, Yongmei and Psaty, Bruce M and Ridker, Paul M and van Dam, Rob M and Kardia, Sharon L R and Zhu, Xiaofeng and Rotimi, Charles N and Mook-Kanamori, Dennis O and Fornage, Myriam and Kelly, Tanika N and Fox, Ervin R and Hayward, Caroline and van Duijn, Cornelia M and Tai, E Shyong and Wong, Tien Yin and Liu, Jingmin and Rotter, Jerome I and Gauderman, W James and Province, Michael A and Munroe, Patricia B and Rice, Kenneth and Chasman, Daniel I and Cupples, L Adrienne and Rao, Dabeeru C and Morrison, Alanna C},
	month = jun,
	year = {2019},
	pages = {1033--1054},
}

@article{kilpelainen_multi-ancestry_2019,
	title = {Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity},
	volume = {10},
	issn = {2041-1723},
	url = {https://www.nature.com/articles/s41467-018-08008-w},
	doi = {10.1038/s41467-018-08008-w},
	abstract = {Abstract
            
              Many genetic loci affect circulating lipid levels, but it remains unknown whether lifestyle factors, such as physical activity, modify these genetic effects. To identify lipid loci interacting with physical activity, we performed genome-wide analyses of circulating HDL cholesterol, LDL cholesterol, and triglyceride levels in up to 120,979 individuals of European, African, Asian, Hispanic, and Brazilian ancestry, with follow-up of suggestive associations in an additional 131,012 individuals. We find four loci, in/near
              CLASP1
              ,
              LHX1
              ,
              SNTA1
              , and
              CNTNAP2
              , that are associated with circulating lipid levels through interaction with physical activity; higher levels of physical activity enhance the HDL cholesterol-increasing effects of the
              CLASP1
              ,
              LHX1
              , and
              SNTA1
              loci and attenuate the LDL cholesterol-increasing effect of the
              CNTNAP2
              locus. The
              CLASP1
              ,
              LHX1
              , and
              SNTA1
              regions harbor genes linked to muscle function and lipid metabolism. Our results elucidate the role of physical activity interactions in the genetic contribution to blood lipid levels.},
	language = {en},
	number = {1},
	urldate = {2023-03-04},
	journal = {Nature Communications},
	author = {Kilpeläinen, Tuomas O. and Bentley, Amy R. and Noordam, Raymond and Sung, Yun Ju and Schwander, Karen and Winkler, Thomas W. and Jakupović, Hermina and Chasman, Daniel I. and Manning, Alisa and Ntalla, Ioanna and Aschard, Hugues and Brown, Michael R. and de las Fuentes, Lisa and Franceschini, Nora and Guo, Xiuqing and Vojinovic, Dina and Aslibekyan, Stella and Feitosa, Mary F. and Kho, Minjung and Musani, Solomon K. and Richard, Melissa and Wang, Heming and Wang, Zhe and Bartz, Traci M. and Bielak, Lawrence F. and Campbell, Archie and Dorajoo, Rajkumar and Fisher, Virginia and Hartwig, Fernando P. and Horimoto, Andrea R. V. R. and Li, Changwei and Lohman, Kurt K. and Marten, Jonathan and Sim, Xueling and Smith, Albert V. and Tajuddin, Salman M. and Alver, Maris and Amini, Marzyeh and Boissel, Mathilde and Chai, Jin Fang and Chen, Xu and Divers, Jasmin and Evangelou, Evangelos and Gao, Chuan and Graff, Mariaelisa and Harris, Sarah E. and He, Meian and Hsu, Fang-Chi and Jackson, Anne U. and Zhao, Jing Hua and Kraja, Aldi T. and Kühnel, Brigitte and Laguzzi, Federica and Lyytikäinen, Leo-Pekka and Nolte, Ilja M. and Rauramaa, Rainer and Riaz, Muhammad and Robino, Antonietta and Rueedi, Rico and Stringham, Heather M. and Takeuchi, Fumihiko and van der Most, Peter J. and Varga, Tibor V. and Verweij, Niek and Ware, Erin B. and Wen, Wanqing and Li, Xiaoyin and Yanek, Lisa R. and Amin, Najaf and Arnett, Donna K. and Boerwinkle, Eric and Brumat, Marco and Cade, Brian and Canouil, Mickaël and Chen, Yii-Der Ida and Concas, Maria Pina and Connell, John and de Mutsert, Renée and de Silva, H. Janaka and de Vries, Paul S. and Demirkan, Ayşe and Ding, Jingzhong and Eaton, Charles B. and Faul, Jessica D. and Friedlander, Yechiel and Gabriel, Kelley P. and Ghanbari, Mohsen and Giulianini, Franco and Gu, Chi Charles and Gu, Dongfeng and Harris, Tamara B. and He, Jiang and Heikkinen, Sami and Heng, Chew-Kiat and Hunt, Steven C. and Ikram, M. Arfan and Jonas, Jost B. and Koh, Woon-Puay and Komulainen, Pirjo and Krieger, Jose E. and Kritchevsky, Stephen B. and Kutalik, Zoltán and Kuusisto, Johanna and Langefeld, Carl D. and Langenberg, Claudia and Launer, Lenore J. and Leander, Karin and Lemaitre, Rozenn N. and Lewis, Cora E. and Liang, Jingjing and {Lifelines Cohort Study} and Alizadeh, Behrooz Z. and Boezen, H. Marike and Franke, Lude and Navis, Gerjan and Rots, Marianne and Swertz, Morris and Wolffenbuttel, Bruce H. R. and Wijmenga, Cisca and Liu, Jianjun and Mägi, Reedik and Manichaikul, Ani and Meitinger, Thomas and Metspalu, Andres and Milaneschi, Yuri and Mohlke, Karen L. and Mosley, Thomas H. and Murray, Alison D. and Nalls, Mike A. and Nang, Ei-Ei Khaing and Nelson, Christopher P. and Nona, Sotoodehnia and Norris, Jill M. and Nwuba, Chiamaka Vivian and O’Connell, Jeff and Palmer, Nicholette D. and Papanicolau, George J. and Pazoki, Raha and Pedersen, Nancy L. and Peters, Annette and Peyser, Patricia A. and Polasek, Ozren and Porteous, David J. and Poveda, Alaitz and Raitakari, Olli T. and Rich, Stephen S. and Risch, Neil and Robinson, Jennifer G. and Rose, Lynda M. and Rudan, Igor and Schreiner, Pamela J. and Scott, Robert A. and Sidney, Stephen S. and Sims, Mario and Smith, Jennifer A. and Snieder, Harold and Sofer, Tamar and Starr, John M. and Sternfeld, Barbara and Strauch, Konstantin and Tang, Hua and Taylor, Kent D. and Tsai, Michael Y. and Tuomilehto, Jaakko and Uitterlinden, André G. and van der Ende, M. Yldau and van Heemst, Diana and Voortman, Trudy and Waldenberger, Melanie and Wennberg, Patrik and Wilson, Gregory and Xiang, Yong-Bing and Yao, Jie and Yu, Caizheng and Yuan, Jian-Min and Zhao, Wei and Zonderman, Alan B. and Becker, Diane M. and Boehnke, Michael and Bowden, Donald W. and de Faire, Ulf and Deary, Ian J. and Elliott, Paul and Esko, Tõnu and Freedman, Barry I. and Froguel, Philippe and Gasparini, Paolo and Gieger, Christian and Kato, Norihiro and Laakso, Markku and Lakka, Timo A. and Lehtimäki, Terho and Magnusson, Patrik K. E. and Oldehinkel, Albertine J. and Penninx, Brenda W. J. H. and Samani, Nilesh J. and Shu, Xiao-Ou and van der Harst, Pim and Van Vliet-Ostaptchouk, Jana V. and Vollenweider, Peter and Wagenknecht, Lynne E. and Wang, Ya X. and Wareham, Nicholas J. and Weir, David R. and Wu, Tangchun and Zheng, Wei and Zhu, Xiaofeng and Evans, Michele K. and Franks, Paul W. and Gudnason, Vilmundur and Hayward, Caroline and Horta, Bernardo L. and Kelly, Tanika N. and Liu, Yongmei and North, Kari E. and Pereira, Alexandre C. and Ridker, Paul M. and Tai, E. Shyong and van Dam, Rob M. and Fox, Ervin R. and Kardia, Sharon L. R. and Liu, Ching-Ti and Mook-Kanamori, Dennis O. and Province, Michael A. and Redline, Susan and van Duijn, Cornelia M. and Rotter, Jerome I. and Kooperberg, Charles B. and Gauderman, W. James and Psaty, Bruce M. and Rice, Kenneth and Munroe, Patricia B. and Fornage, Myriam and Cupples, L. Adrienne and Rotimi, Charles N. and Morrison, Alanna C. and Rao, Dabeeru C. and Loos, Ruth J. F.},
	month = jan,
	year = {2019},
	pages = {376},
}

@article{mahajan_fine-mapping_2018,
	title = {Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps},
	volume = {50},
	issn = {1061-4036, 1546-1718},
	url = {http://www.nature.com/articles/s41588-018-0241-6},
	doi = {10.1038/s41588-018-0241-6},
	language = {en},
	number = {11},
	urldate = {2023-03-04},
	journal = {Nature Genetics},
	author = {Mahajan, Anubha and Taliun, Daniel and Thurner, Matthias and Robertson, Neil R. and Torres, Jason M. and Rayner, N. William and Payne, Anthony J. and Steinthorsdottir, Valgerdur and Scott, Robert A. and Grarup, Niels and Cook, James P. and Schmidt, Ellen M. and Wuttke, Matthias and Sarnowski, Chloé and Mägi, Reedik and Nano, Jana and Gieger, Christian and Trompet, Stella and Lecoeur, Cécile and Preuss, Michael H. and Prins, Bram Peter and Guo, Xiuqing and Bielak, Lawrence F. and Below, Jennifer E. and Bowden, Donald W. and Chambers, John Campbell and Kim, Young Jin and Ng, Maggie C. Y. and Petty, Lauren E. and Sim, Xueling and Zhang, Weihua and Bennett, Amanda J. and Bork-Jensen, Jette and Brummett, Chad M. and Canouil, Mickaël and Ec kardt, Kai-Uwe and Fischer, Krista and Kardia, Sharon L. R. and Kronenberg, Florian and Läll, Kristi and Liu, Ching-Ti and Locke, Adam E. and Luan, Jian’an and Ntalla, Ioanna and Nylander, Vibe and Schönherr, Sebastian and Schurmann, Claudia and Yengo, Loïc and Bottinger, Erwin P. and Brandslund, Ivan and Christensen, Cramer and Dedoussis, George and Florez, Jose C. and Ford, Ian and Franco, Oscar H. and Frayling, Timothy M. and Giedraitis, Vilmantas and Hackinger, Sophie and Hattersley, Andrew T. and Herder, Christian and Ikram, M. Arfan and Ingelsson, Martin and Jørgensen, Marit E. and Jørgensen, Torben and Kriebel, Jennifer and Kuusisto, Johanna and Ligthart, Symen and Lindgren, Cecilia M. and Linneberg, Allan and Lyssenko, Valeriya and Mamakou, Vasiliki and Meitinger, Thomas and Mohlke, Karen L. and Morris, Andrew D. and Nadkarni, Girish and Pankow, James S. and Peters, Annette and Sattar, Naveed and Stančáková, Alena and Strauch, Konstantin and Taylor, Kent D. and Thorand, Barbara and Thorleifsson, Gudmar and Thorsteinsdottir, Unnur and Tuomilehto, Jaakko and Witte, Daniel R. and Dupuis, Josée and Peyser, Patricia A. and Zeggini, Eleftheria and Loos, Ruth J. F. and Froguel, Philippe and Ingelsson, Erik and Lind, Lars and Groop, Leif and Laakso, Markku and Collins, Francis S. and Jukema, J. Wouter and Palmer, Colin N. A. and Grallert, Harald and Metspalu, Andres and Dehghan, Abbas and Köttgen, Anna and Abecasis, Goncalo R. and Meigs, James B. and Rotter, Jerome I. and Marchini, Jonathan and Pedersen, Oluf and Hansen, Torben and Langenberg, Claudia and Wareham, Nicholas J. and Stefansson, Kari and Gloyn, Anna L. and Morris, Andrew P. and Boehnke, Michael and McCarthy, Mark I.},
	month = nov,
	year = {2018},
	pages = {1505--1513},
}

@article{karamitri_type_2018,
	title = {Type 2 diabetes–associated variants of the {MT} $_{\textrm{2}}$ melatonin receptor affect distinct modes of signaling},
	volume = {11},
	issn = {1945-0877, 1937-9145},
	url = {https://www.science.org/doi/10.1126/scisignal.aan6622},
	doi = {10.1126/scisignal.aan6622},
	abstract = {Connecting melatonin receptor variants to signaling differences reveals paths to type 2 diabetes therapy.
          , 
            Melatonin meets diabetes
            
              Some of the single-nucleotide polymorphisms associated with type 2 diabetes (T2D) occur in the gene encoding the melatonin receptor MT
              2
              , a G protein–coupled receptor (GPCR). Karamitri
              et al
              . measured the spontaneous and melatonin-stimulated signaling of 40 different MT
              2
              variants. Computational analysis of these signaling profiles and assessment of genetic association data showed that those MT
              2
              variants with defective melatonin-stimulated G protein signaling and reduced spontaneous β-arrestin recruitment were associated with the greatest risk for T2D. These data may aid in the development of specific treatments for T2D depending on the patient’s MT
              2
              variant. Moreover, the experimental approach may be applied to assess the impact of other GPCR mutations on disease associations.
            
          , 
            
              Melatonin is produced during the night and regulates sleep and circadian rhythms. Loss-of-function variants in
              MTNR1B
              , which encodes the melatonin receptor MT
              2
              , a G protein–coupled receptor (GPCR), are associated with an increased risk of type 2 diabetes (T2D). To identify specific T2D-associated signaling pathway(s), we profiled the signaling output of 40 MT
              2
              variants by monitoring spontaneous (ligand-independent) and melatonin-induced activation of multiple signaling effectors. Genetic association analysis showed that defects in the melatonin-induced activation of Gα
              i1
              and Gα
              z
              proteins and in spontaneous β-arrestin2 recruitment to MT
              2
              were the most statistically significantly associated with an increased T2D risk. Computational variant impact prediction by in silico evolutionary lineage analysis strongly correlated with the measured phenotypic effect of each variant, providing a predictive tool for future studies on GPCR variants. Together, this large-scale functional study provides an operational framework for the postgenomic analysis of the multiple GPCR variants present in the human population. The association of T2D risk with signaling pathway–specific defects opens avenues for pathway-specific personalized therapeutic intervention and reveals the potential relevance of MT
              2
              function during the day, when melatonin is undetectable, but spontaneous activity of the receptor occurs.},
	language = {en},
	number = {545},
	urldate = {2023-03-04},
	journal = {Science Signaling},
	author = {Karamitri, Angeliki and Plouffe, Bianca and Bonnefond, Amélie and Chen, Min and Gallion, Jonathan and Guillaume, Jean-Luc and Hegron, Alan and Boissel, Mathilde and Canouil, Mickaël and Langenberg, Claudia and Wareham, Nicholas J. and Le Gouill, Christian and Lukasheva, Viktoria and Lichtarge, Olivier and Froguel, Philippe and Bouvier, Michel and Jockers, Ralf},
	month = aug,
	year = {2018},
	pages = {eaan6622},
}

@article{feitosa_novel_2018,
	title = {Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to {570K} individuals across multiple ancestries},
	volume = {13},
	issn = {1932-6203},
	url = {https://dx.plos.org/10.1371/journal.pone.0198166},
	doi = {10.1371/journal.pone.0198166},
	language = {en},
	number = {6},
	urldate = {2023-03-04},
	journal = {PLOS ONE},
	author = {Feitosa, Mary F. and Kraja, Aldi T. and Chasman, Daniel I. and Sung, Yun J. and Winkler, Thomas W. and Ntalla, Ioanna and Guo, Xiuqing and Franceschini, Nora and Cheng, Ching-Yu and Sim, Xueling and Vojinovic, Dina and Marten, Jonathan and Musani, Solomon K. and Li, Changwei and Bentley, Amy R. and Brown, Michael R. and Schwander, Karen and Richard, Melissa A. and Noordam, Raymond and Aschard, Hugues and Bartz, Traci M. and Bielak, Lawrence F. and Dorajoo, Rajkumar and Fisher, Virginia and Hartwig, Fernando P. and Horimoto, Andrea R. V. R. and Lohman, Kurt K. and Manning, Alisa K. and Rankinen, Tuomo and Smith, Albert V. and Tajuddin, Salman M. and Wojczynski, Mary K. and Alver, Maris and Boissel, Mathilde and Cai, Qiuyin and Campbell, Archie and Chai, Jin Fang and Chen, Xu and Divers, Jasmin and Gao, Chuan and Goel, Anuj and Hagemeijer, Yanick and Harris, Sarah E. and He, Meian and Hsu, Fang-Chi and Jackson, Anne U. and Kähönen, Mika and Kasturiratne, Anuradhani and Komulainen, Pirjo and Kühnel, Brigitte and Laguzzi, Federica and Luan, Jian'an and Matoba, Nana and Nolte, Ilja M. and Padmanabhan, Sandosh and Riaz, Muhammad and Rueedi, Rico and Robino, Antonietta and Said, M. Abdullah and Scott, Robert A. and Sofer, Tamar and Stančáková, Alena and Takeuchi, Fumihiko and Tayo, Bamidele O. and van der Most, Peter J. and Varga, Tibor V. and Vitart, Veronique and Wang, Yajuan and Ware, Erin B. and Warren, Helen R. and Weiss, Stefan and Wen, Wanqing and Yanek, Lisa R. and Zhang, Weihua and Zhao, Jing Hua and Afaq, Saima and Amin, Najaf and Amini, Marzyeh and Arking, Dan E. and Aung, Tin and Boerwinkle, Eric and Borecki, Ingrid and Broeckel, Ulrich and Brown, Morris and Brumat, Marco and Burke, Gregory L. and Canouil, Mickaël and Chakravarti, Aravinda and Charumathi, Sabanayagam and Ida Chen, Yii-Der and Connell, John M. and Correa, Adolfo and de las Fuentes, Lisa and de Mutsert, Renée and de Silva, H. Janaka and Deng, Xuan and Ding, Jingzhong and Duan, Qing and Eaton, Charles B. and Ehret, Georg and Eppinga, Ruben N. and Evangelou, Evangelos and Faul, Jessica D. and Felix, Stephan B. and Forouhi, Nita G. and Forrester, Terrence and Franco, Oscar H. and Friedlander, Yechiel and Gandin, Ilaria and Gao, He and Ghanbari, Mohsen and Gigante, Bruna and Gu, C. Charles and Gu, Dongfeng and Hagenaars, Saskia P. and Hallmans, Göran and Harris, Tamara B. and He, Jiang and Heikkinen, Sami and Heng, Chew-Kiat and Hirata, Makoto and Howard, Barbara V. and Ikram, M. Arfan and {InterAct Consortium} and John, Ulrich and Katsuya, Tomohiro and Khor, Chiea Chuen and Kilpeläinen, Tuomas O. and Koh, Woon-Puay and Krieger, José E. and Kritchevsky, Stephen B. and Kubo, Michiaki and Kuusisto, Johanna and Lakka, Timo A. and Langefeld, Carl D. and Langenberg, Claudia and Launer, Lenore J. and Lehne, Benjamin and Lewis, Cora E. and Li, Yize and Lin, Shiow and Liu, Jianjun and Liu, Jingmin and Loh, Marie and Louie, Tin and Mägi, Reedik and McKenzie, Colin A. and Meitinger, Thomas and Metspalu, Andres and Milaneschi, Yuri and Milani, Lili and Mohlke, Karen L. and Momozawa, Yukihide and Nalls, Mike A. and Nelson, Christopher P. and Sotoodehnia, Nona and Norris, Jill M. and O'Connell, Jeff R. and Palmer, Nicholette D. and Perls, Thomas and Pedersen, Nancy L. and Peters, Annette and Peyser, Patricia A. and Poulter, Neil and Raffel, Leslie J. and Raitakari, Olli T. and Roll, Kathryn and Rose, Lynda M. and Rosendaal, Frits R. and Rotter, Jerome I. and Schmidt, Carsten O. and Schreiner, Pamela J. and Schupf, Nicole and Scott, William R. and Sever, Peter S. and Shi, Yuan and Sidney, Stephen and Sims, Mario and Sitlani, Colleen M. and Smith, Jennifer A. and Snieder, Harold and Starr, John M. and Strauch, Konstantin and Stringham, Heather M. and Tan, Nicholas Y. Q. and Tang, Hua and Taylor, Kent D. and Teo, Yik Ying and Tham, Yih Chung and Turner, Stephen T. and Uitterlinden, André G. and Vollenweider, Peter and Waldenberger, Melanie and Wang, Lihua and Wang, Ya Xing and Wei, Wen Bin and Williams, Christine and Yao, Jie and Yu, Caizheng and Yuan, Jian-Min and Zhao, Wei and Zonderman, Alan B. and Becker, Diane M. and Boehnke, Michael and Bowden, Donald W. and Chambers, John C. and Deary, Ian J. and Esko, Tõnu and Farrall, Martin and Franks, Paul W. and Freedman, Barry I. and Froguel, Philippe and Gasparini, Paolo and Gieger, Christian and Jonas, Jost Bruno and Kamatani, Yoichiro and Kato, Norihiro and Kooner, Jaspal S. and Kutalik, Zoltán and Laakso, Markku and Laurie, Cathy C. and Leander, Karin and Lehtimäki, Terho and Study, Lifelines Cohort and Magnusson, Patrik K. E. and Oldehinkel, Albertine J. and Penninx, Brenda W. J. H. and Polasek, Ozren and Porteous, David J. and Rauramaa, Rainer and Samani, Nilesh J. and Scott, James and Shu, Xiao-Ou and van der Harst, Pim and Wagenknecht, Lynne E. and Wareham, Nicholas J. and Watkins, Hugh and Weir, David R. and Wickremasinghe, Ananda R. and Wu, Tangchun and Zheng, Wei and Bouchard, Claude and Christensen, Kaare and Evans, Michele K. and Gudnason, Vilmundur and Horta, Bernardo L. and Kardia, Sharon L. R. and Liu, Yongmei and Pereira, Alexandre C. and Psaty, Bruce M. and Ridker, Paul M. and van Dam, Rob M. and Gauderman, W. James and Zhu, Xiaofeng and Mook-Kanamori, Dennis O. and Fornage, Myriam and Rotimi, Charles N. and Cupples, L. Adrienne and Kelly, Tanika N. and Fox, Ervin R. and Hayward, Caroline and van Duijn, Cornelia M. and Tai, E Shyong and Wong, Tien Yin and Kooperberg, Charles and Palmas, Walter and Rice, Kenneth and Morrison, Alanna C. and Elliott, Paul and Caulfield, Mark J. and Munroe, Patricia B. and Rao, Dabeeru C. and Province, Michael A. and Levy, Daniel},
	editor = {Kuivaniemi, Helena},
	month = jun,
	year = {2018},
	pages = {e0198166},
}

@article{canouil_jointly_2018,
	title = {Jointly {Modelling} {Single} {Nucleotide} {Polymorphisms} {With} {Longitudinal} and {Time}-to-{Event} {Trait}: {An} {Application} to {Type} 2 {Diabetes} and {Fasting} {Plasma} {Glucose}},
	volume = {9},
	issn = {1664-8021},
	shorttitle = {Jointly {Modelling} {Single} {Nucleotide} {Polymorphisms} {With} {Longitudinal} and {Time}-to-{Event} {Trait}},
	url = {https://www.frontiersin.org/article/10.3389/fgene.2018.00210/full},
	doi = {10.3389/fgene.2018.00210},
	urldate = {2023-03-04},
	journal = {Frontiers in Genetics},
	author = {Canouil, Mickaël and Balkau, Beverley and Roussel, Ronan and Froguel, Philippe and Rocheleau, Ghislain},
	month = jun,
	year = {2018},
	pages = {210},
	annote = {first
},
}

@article{abderrahmani_increased_2018,
	title = {Increased {Hepatic} {PDGF}-{AA} {Signaling} {Mediates} {Liver} {Insulin} {Resistance} in {Obesity}-{Associated} {Type} 2 {Diabetes}},
	volume = {67},
	issn = {0012-1797, 1939-327X},
	url = {https://diabetesjournals.org/diabetes/article/67/7/1310/35346/Increased-Hepatic-PDGF-AA-Signaling-Mediates-Liver},
	doi = {10.2337/db17-1539},
	abstract = {In type 2 diabetes (T2D), hepatic insulin resistance is strongly associated with nonalcoholic fatty liver disease (NAFLD). In this study, we hypothesized that the DNA methylome of livers from patients with T2D compared with livers of individuals with normal plasma glucose levels can unveil some mechanism of hepatic insulin resistance that could link to NAFLD. Using DNA methylome and transcriptome analyses of livers from obese individuals, we found that hypomethylation at a CpG site in PDGFA (encoding platelet-derived growth factor α) and PDGFA overexpression are both associated with increased T2D risk, hyperinsulinemia, increased insulin resistance, and increased steatohepatitis risk. Genetic risk score studies and human cell modeling pointed to a causative effect of high insulin levels on PDGFA CpG site hypomethylation, PDGFA overexpression, and increased PDGF-AA secretion from the liver. We found that PDGF-AA secretion further stimulates its own expression through protein kinase C activity and contributes to insulin resistance through decreased expression of insulin receptor substrate 1 and of insulin receptor. Importantly, hepatocyte insulin sensitivity can be restored by PDGF-AA–blocking antibodies, PDGF receptor inhibitors, and by metformin, opening therapeutic avenues. Therefore, in the liver of obese patients with T2D, the increased PDGF-AA signaling contributes to insulin resistance, opening new therapeutic avenues against T2D and possibly NAFLD.},
	language = {en},
	number = {7},
	urldate = {2023-03-04},
	journal = {Diabetes},
	author = {Abderrahmani, Amar and Yengo, Loïc and Caiazzo, Robert and Canouil, Mickaël and Cauchi, Stéphane and Raverdy, Violeta and Plaisance, Valérie and Pawlowski, Valérie and Lobbens, Stéphane and Maillet, Julie and Rolland, Laure and Boutry, Raphael and Queniat, Gurvan and Kwapich, Maxime and Tenenbaum, Mathie and Bricambert, Julien and Saussenthaler, Sophie and Anthony, Elodie and Jha, Pooja and Derop, Julien and Sand, Olivier and Rabearivelo, Iandry and Leloire, Audrey and Pigeyre, Marie and Daujat-Chavanieu, Martine and Gerbal-Chaloin, Sabine and Dayeh, Tasnim and Lassailly, Guillaume and Mathurin, Philippe and Staels, Bart and Auwerx, Johan and Schürmann, Annette and Postic, Catherine and Schafmayer, Clemens and Hampe, Jochen and Bonnefond, Amélie and Pattou, François and Froguel, Philippe},
	month = jul,
	year = {2018},
	pages = {1310--1321},
	annote = {first
},
}

@article{mahajan_refining_2018,
	title = {Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes},
	volume = {50},
	issn = {1061-4036, 1546-1718},
	url = {https://www.nature.com/articles/s41588-018-0084-1},
	doi = {10.1038/s41588-018-0084-1},
	language = {en},
	number = {4},
	urldate = {2023-03-04},
	journal = {Nature Genetics},
	author = {Mahajan, Anubha and Wessel, Jennifer and Willems, Sara M. and Zhao, Wei and Robertson, Neil R. and Chu, Audrey Y. and Gan, Wei and Kitajima, Hidetoshi and Taliun, Daniel and Rayner, N. William and Guo, Xiuqing and Lu, Yingchang and Li, Man and Jensen, Richard A. and Hu, Yao and Huo, Shaofeng and Lohman, Kurt K. and Zhang, Weihua and Cook, James P. and Prins, Bram Peter and Flannick, Jason and Grarup, Niels and Trubetskoy, Vassily Vladimirovich and Kravic, Jasmina and Kim, Young Jin and Rybin, Denis V. and Yaghootkar, Hanieh and Müller-Nurasyid, Martina and Meidtner, Karina and Li-Gao, Ruifang and Varga, Tibor V. and Marten, Jonathan and Li, Jin and Smith, Albert Vernon and An, Ping and Ligthart, Symen and Gustafsson, Stefan and Malerba, Giovanni and Demirkan, Ayse and Tajes, Juan Fernandez and Steinthorsdottir, Valgerdur and Wuttke, Matthias and Lecoeur, Cécile and Preuss, Michael and Bielak, Lawrence F. and Graff, Marielisa and Highland, Heather M. and Justice, Anne E. and Liu, Dajiang J. and Marouli, Eirini and Peloso, Gina Marie and Warren, Helen R. and {ExomeBP Consortium} and {MAGIC Consortium} and {GIANT Consortium} and Afaq, Saima and Afzal, Shoaib and Ahlqvist, Emma and Almgren, Peter and Amin, Najaf and Bang, Lia B. and Bertoni, Alain G. and Bombieri, Cristina and Bork-Jensen, Jette and Brandslund, Ivan and Brody, Jennifer A. and Burtt, Noël P. and Canouil, Mickaël and Chen, Yii-Der Ida and Cho, Yoon Shin and Christensen, Cramer and Eastwood, Sophie V. and Eckardt, Kai-Uwe and Fischer, Krista and Gambaro, Giovanni and Giedraitis, Vilmantas and Grove, Megan L. and de Haan, Hugoline G. and Hackinger, Sophie and Hai, Yang and Han, Sohee and Tybjærg-Hansen, Anne and Hivert, Marie-France and Isomaa, Bo and Jäger, Susanne and Jørgensen, Marit E. and Jørgensen, Torben and Käräjämäki, Annemari and Kim, Bong-Jo and Kim, Sung Soo and Koistinen, Heikki A. and Kovacs, Peter and Kriebel, Jennifer and Kronenberg, Florian and Läll, Kristi and Lange, Leslie A. and Lee, Jung-Jin and Lehne, Benjamin and Li, Huaixing and Lin, Keng-Hung and Linneberg, Allan and Liu, Ching-Ti and Liu, Jun and Loh, Marie and Mägi, Reedik and Mamakou, Vasiliki and McKean-Cowdin, Roberta and Nadkarni, Girish and Neville, Matt and Nielsen, Sune F. and Ntalla, Ioanna and Peyser, Patricia A. and Rathmann, Wolfgang and Rice, Kenneth and Rich, Stephen S. and Rode, Line and Rolandsson, Olov and Schönherr, Sebastian and Selvin, Elizabeth and Small, Kerrin S. and Stančáková, Alena and Surendran, Praveen and Taylor, Kent D. and Teslovich, Tanya M. and Thorand, Barbara and Thorleifsson, Gudmar and Tin, Adrienne and Tönjes, Anke and Varbo, Anette and Witte, Daniel R. and Wood, Andrew R. and Yajnik, Pranav and Yao, Jie and Yengo, Loïc and Young, Robin and Amouyel, Philippe and Boeing, Heiner and Boerwinkle, Eric and Bottinger, Erwin P. and Chowdhury, Rajiv and Collins, Francis S. and Dedoussis, George and Dehghan, Abbas and Deloukas, Panos and Ferrario, Marco M. and Ferrières, Jean and Florez, Jose C. and Frossard, Philippe and Gudnason, Vilmundur and Harris, Tamara B. and Heckbert, Susan R. and Howson, Joanna M. M. and Ingelsson, Martin and Kathiresan, Sekar and Kee, Frank and Kuusisto, Johanna and Langenberg, Claudia and Launer, Lenore J. and Lindgren, Cecilia M. and Männistö, Satu and Meitinger, Thomas and Melander, Olle and Mohlke, Karen L. and Moitry, Marie and Morris, Andrew D. and Murray, Alison D. and de Mutsert, Renée and Orho-Melander, Marju and Owen, Katharine R. and Perola, Markus and Peters, Annette and Province, Michael A. and Rasheed, Asif and Ridker, Paul M. and Rivadineira, Fernando and Rosendaal, Frits R. and Rosengren, Anders H. and Salomaa, Veikko and Sheu, Wayne H.-H. and Sladek, Rob and Smith, Blair H. and Strauch, Konstantin and Uitterlinden, André G. and Varma, Rohit and Willer, Cristen J. and Blüher, Matthias and Butterworth, Adam S. and Chambers, John Campbell and Chasman, Daniel I. and Danesh, John and van Duijn, Cornelia and Dupuis, Josée and Franco, Oscar H. and Franks, Paul W. and Froguel, Philippe and Grallert, Harald and Groop, Leif and Han, Bok-Ghee and Hansen, Torben and Hattersley, Andrew T. and Hayward, Caroline and Ingelsson, Erik and Kardia, Sharon L. R. and Karpe, Fredrik and Kooner, Jaspal Singh and Köttgen, Anna and Kuulasmaa, Kari and Laakso, Markku and Lin, Xu and Lind, Lars and Liu, Yongmei and Loos, Ruth J. F. and Marchini, Jonathan and Metspalu, Andres and Mook-Kanamori, Dennis and Nordestgaard, Børge G. and Palmer, Colin N. A. and Pankow, James S. and Pedersen, Oluf and Psaty, Bruce M. and Rauramaa, Rainer and Sattar, Naveed and Schulze, Matthias B. and Soranzo, Nicole and Spector, Timothy D. and Stefansson, Kari and Stumvoll, Michael and Thorsteinsdottir, Unnur and Tuomi, Tiinamaija and Tuomilehto, Jaakko and Wareham, Nicholas J. and Wilson, James G. and Zeggini, Eleftheria and Scott, Robert A. and Barroso, Inês and Frayling, Timothy M. and Goodarzi, Mark O. and Meigs, James B. and Boehnke, Michael and Saleheen, Danish and Morris, Andrew P. and Rotter, Jerome I. and McCarthy, Mark I.},
	month = apr,
	year = {2018},
	pages = {559--571},
}

@article{sung_large-scale_2018,
	title = {A {Large}-{Scale} {Multi}-ancestry {Genome}-wide {Study} {Accounting} for {Smoking} {Behavior} {Identifies} {Multiple} {Significant} {Loci} for {Blood} {Pressure}},
	volume = {102},
	issn = {00029297},
	url = {https://linkinghub.elsevier.com/retrieve/pii/S000292971830017X},
	doi = {10.1016/j.ajhg.2018.01.015},
	language = {en},
	number = {3},
	urldate = {2023-03-04},
	journal = {The American Journal of Human Genetics},
	author = {Sung, Yun J. and Winkler, Thomas W. and de las Fuentes, Lisa and Bentley, Amy R. and Brown, Michael R. and Kraja, Aldi T. and Schwander, Karen and Ntalla, Ioanna and Guo, Xiuqing and Franceschini, Nora and Lu, Yingchang and Cheng, Ching-Yu and Sim, Xueling and Vojinovic, Dina and Marten, Jonathan and Musani, Solomon K. and Li, Changwei and Feitosa, Mary F. and Kilpeläinen, Tuomas O. and Richard, Melissa A. and Noordam, Raymond and Aslibekyan, Stella and Aschard, Hugues and Bartz, Traci M. and Dorajoo, Rajkumar and Liu, Yongmei and Manning, Alisa K. and Rankinen, Tuomo and Smith, Albert Vernon and Tajuddin, Salman M. and Tayo, Bamidele O. and Warren, Helen R. and Zhao, Wei and Zhou, Yanhua and Matoba, Nana and Sofer, Tamar and Alver, Maris and Amini, Marzyeh and Boissel, Mathilde and Chai, Jin Fang and Chen, Xu and Divers, Jasmin and Gandin, Ilaria and Gao, Chuan and Giulianini, Franco and Goel, Anuj and Harris, Sarah E. and Hartwig, Fernando Pires and Horimoto, Andrea R.V.R. and Hsu, Fang-Chi and Jackson, Anne U. and Kähönen, Mika and Kasturiratne, Anuradhani and Kühnel, Brigitte and Leander, Karin and Lee, Wen-Jane and Lin, Keng-Hung and ’an Luan, Jian and McKenzie, Colin A. and Meian, He and Nelson, Christopher P. and Rauramaa, Rainer and Schupf, Nicole and Scott, Robert A. and Sheu, Wayne H.H. and Stančáková, Alena and Takeuchi, Fumihiko and van der Most, Peter J. and Varga, Tibor V. and Wang, Heming and Wang, Yajuan and Ware, Erin B. and Weiss, Stefan and Wen, Wanqing and Yanek, Lisa R. and Zhang, Weihua and Zhao, Jing Hua and Afaq, Saima and Alfred, Tamuno and Amin, Najaf and Arking, Dan and Aung, Tin and Barr, R. Graham and Bielak, Lawrence F. and Boerwinkle, Eric and Bottinger, Erwin P. and Braund, Peter S. and Brody, Jennifer A. and Broeckel, Ulrich and Cabrera, Claudia P. and Cade, Brian and Caizheng, Yu and Campbell, Archie and Canouil, Mickaël and Chakravarti, Aravinda and Chauhan, Ganesh and Christensen, Kaare and Cocca, Massimiliano and Collins, Francis S. and Connell, John M. and de Mutsert, Renée and de Silva, H. Janaka and Debette, Stephanie and Dörr, Marcus and Duan, Qing and Eaton, Charles B. and Ehret, Georg and Evangelou, Evangelos and Faul, Jessica D. and Fisher, Virginia A. and Forouhi, Nita G. and Franco, Oscar H. and Friedlander, Yechiel and Gao, He and Gigante, Bruna and Graff, Misa and Gu, C. Charles and Gu, Dongfeng and Gupta, Preeti and Hagenaars, Saskia P. and Harris, Tamara B. and He, Jiang and Heikkinen, Sami and Heng, Chew-Kiat and Hirata, Makoto and Hofman, Albert and Howard, Barbara V. and Hunt, Steven and Irvin, Marguerite R. and Jia, Yucheng and Joehanes, Roby and Justice, Anne E. and Katsuya, Tomohiro and Kaufman, Joel and Kerrison, Nicola D. and Khor, Chiea Chuen and Koh, Woon-Puay and Koistinen, Heikki A. and Komulainen, Pirjo and Kooperberg, Charles and Krieger, Jose E. and Kubo, Michiaki and Kuusisto, Johanna and Langefeld, Carl D. and Langenberg, Claudia and Launer, Lenore J. and Lehne, Benjamin and Lewis, Cora E. and Li, Yize and Lim, Sing Hui and Lin, Shiow and Liu, Ching-Ti and Liu, Jianjun and Liu, Jingmin and Liu, Kiang and Liu, Yeheng and Loh, Marie and Lohman, Kurt K. and Long, Jirong and Louie, Tin and Mägi, Reedik and Mahajan, Anubha and Meitinger, Thomas and Metspalu, Andres and Milani, Lili and Momozawa, Yukihide and Morris, Andrew P. and Mosley, Thomas H. and Munson, Peter and Murray, Alison D. and Nalls, Mike A. and Nasri, Ubaydah and Norris, Jill M. and North, Kari and Ogunniyi, Adesola and Padmanabhan, Sandosh and Palmas, Walter R. and Palmer, Nicholette D. and Pankow, James S. and Pedersen, Nancy L. and Peters, Annette and Peyser, Patricia A. and Polasek, Ozren and Raitakari, Olli T. and Renström, Frida and Rice, Treva K. and Ridker, Paul M. and Robino, Antonietta and Robinson, Jennifer G. and Rose, Lynda M. and Rudan, Igor and Sabanayagam, Charumathi and Salako, Babatunde L. and Sandow, Kevin and Schmidt, Carsten O. and Schreiner, Pamela J. and Scott, William R. and Seshadri, Sudha and Sever, Peter and Sitlani, Colleen M. and Smith, Jennifer A. and Snieder, Harold and Starr, John M. and Strauch, Konstantin and Tang, Hua and Taylor, Kent D. and Teo, Yik Ying and Tham, Yih Chung and Uitterlinden, André G. and Waldenberger, Melanie and Wang, Lihua and Wang, Ya X. and Wei, Wen Bin and Williams, Christine and Wilson, Gregory and Wojczynski, Mary K. and Yao, Jie and Yuan, Jian-Min and Zonderman, Alan B. and Becker, Diane M. and Boehnke, Michael and Bowden, Donald W. and Chambers, John C. and Chen, Yii-Der Ida and de Faire, Ulf and Deary, Ian J. and Esko, Tõnu and Farrall, Martin and Forrester, Terrence and Franks, Paul W. and Freedman, Barry I. and Froguel, Philippe and Gasparini, Paolo and Gieger, Christian and Horta, Bernardo Lessa and Hung, Yi-Jen and Jonas, Jost B. and Kato, Norihiro and Kooner, Jaspal S. and Laakso, Markku and Lehtimäki, Terho and Liang, Kae-Woei and Magnusson, Patrik K.E. and Newman, Anne B. and Oldehinkel, Albertine J. and Pereira, Alexandre C. and Redline, Susan and Rettig, Rainer and Samani, Nilesh J. and Scott, James and Shu, Xiao-Ou and van der Harst, Pim and Wagenknecht, Lynne E. and Wareham, Nicholas J. and Watkins, Hugh and Weir, David R. and Wickremasinghe, Ananda R. and Wu, Tangchun and Zheng, Wei and Kamatani, Yoichiro and Laurie, Cathy C. and Bouchard, Claude and Cooper, Richard S. and Evans, Michele K. and Gudnason, Vilmundur and Kardia, Sharon L.R. and Kritchevsky, Stephen B. and Levy, Daniel and O’Connell, Jeff R. and Psaty, Bruce M. and van Dam, Rob M. and Sims, Mario and Arnett, Donna K. and Mook-Kanamori, Dennis O. and Kelly, Tanika N. and Fox, Ervin R. and Hayward, Caroline and Fornage, Myriam and Rotimi, Charles N. and Province, Michael A. and van Duijn, Cornelia M. and Tai, E. Shyong and Wong, Tien Yin and Loos, Ruth J.F. and Reiner, Alex P. and Rotter, Jerome I. and Zhu, Xiaofeng and Bierut, Laura J. and Gauderman, W. James and Caulfield, Mark J. and Elliott, Paul and Rice, Kenneth and Munroe, Patricia B. and Morrison, Alanna C. and Cupples, L. Adrienne and Rao, Dabeeru C. and Chasman, Daniel I.},
	month = mar,
	year = {2018},
	pages = {375--400},
}

@article{verbanck_low-dose_2017,
	title = {Low-dose exposure to bisphenols {A}, {F} and {S} of human primary adipocyte impacts coding and non-coding {RNA} profiles},
	volume = {12},
	issn = {1932-6203},
	url = {https://dx.plos.org/10.1371/journal.pone.0179583},
	doi = {10.1371/journal.pone.0179583},
	language = {en},
	number = {6},
	urldate = {2023-03-04},
	journal = {PLOS ONE},
	author = {Verbanck, Marie and Canouil, Mickaël and Leloire, Audrey and Dhennin, Véronique and Coumoul, Xavier and Yengo, Loïc and Froguel, Philippe and Poulain-Godefroy, Odile},
	editor = {Guillou, Hervé},
	month = jun,
	year = {2017},
	pages = {e0179583},
	annote = {first
},
}

@article{ndiaye_expression_2017,
	title = {Expression and functional assessment of candidate type 2 diabetes susceptibility genes identify four new genes contributing to human insulin secretion},
	volume = {6},
	issn = {22128778},
	url = {https://linkinghub.elsevier.com/retrieve/pii/S2212877817301199},
	doi = {10.1016/j.molmet.2017.03.011},
	language = {en},
	number = {6},
	urldate = {2023-03-04},
	journal = {Molecular Metabolism},
	author = {Ndiaye, Fatou K. and Ortalli, Ana and Canouil, Mickaël and Huyvaert, Marlène and Salazar-Cardozo, Clara and Lecoeur, Cécile and Verbanck, Marie and Pawlowski, Valérie and Boutry, Raphaël and Durand, Emmanuelle and Rabearivelo, Iandry and Sand, Olivier and Marselli, Lorella and Kerr-Conte, Julie and Chandra, Vikash and Scharfmann, Raphaël and Poulain-Godefroy, Odile and Marchetti, Piero and Pattou, François and Abderrahmani, Amar and Froguel, Philippe and Bonnefond, Amélie},
	month = jun,
	year = {2017},
	pages = {459--470},
	annote = {first
},
}

@article{bonnefond_relationship_2017,
	title = {Relationship between salivary/pancreatic amylase and body mass index: a systems biology approach},
	volume = {15},
	issn = {1741-7015},
	shorttitle = {Relationship between salivary/pancreatic amylase and body mass index},
	url = {http://bmcmedicine.biomedcentral.com/articles/10.1186/s12916-017-0784-x},
	doi = {10.1186/s12916-017-0784-x},
	language = {en},
	number = {1},
	urldate = {2023-03-04},
	journal = {BMC Medicine},
	author = {Bonnefond, Amélie and Yengo, Loïc and Dechaume, Aurélie and Canouil, Mickaël and Castelain, Maxime and Roger, Estelle and Allegaert, Frédéric and Caiazzo, Robert and Raverdy, Violeta and Pigeyre, Marie and Arredouani, Abdelilah and Borys, Jean-Michel and Lévy-Marchal, Claire and Weill, Jacques and Roussel, Ronan and Balkau, Beverley and Marre, Michel and Pattou, François and Brousseau, Thierry and Froguel, Philippe},
	month = dec,
	year = {2017},
	pages = {37},
}

@article{carrat_decreased_2017,
	title = {Decreased {STARD10} {Expression} {Is} {Associated} with {Defective} {Insulin} {Secretion} in {Humans} and {Mice}},
	volume = {100},
	issn = {00029297},
	url = {https://linkinghub.elsevier.com/retrieve/pii/S0002929717300113},
	doi = {10.1016/j.ajhg.2017.01.011},
	language = {en},
	number = {2},
	urldate = {2023-03-04},
	journal = {The American Journal of Human Genetics},
	author = {Carrat, Gaelle R. and Hu, Ming and Nguyen-Tu, Marie-Sophie and Chabosseau, Pauline and Gaulton, Kyle J. and van de Bunt, Martijn and Siddiq, Afshan and Falchi, Mario and Thurner, Matthias and Canouil, Mickaël and Pattou, Francois and Leclerc, Isabelle and Pullen, Timothy J. and Cane, Matthew C. and Prabhala, Priyanka and Greenwald, William and Schulte, Anke and Marchetti, Piero and Ibberson, Mark and MacDonald, Patrick E. and Manning Fox, Jocelyn E. and Gloyn, Anna L. and Froguel, Philippe and Solimena, Michele and McCarthy, Mark I. and Rutter, Guy A.},
	month = feb,
	year = {2017},
	pages = {238--256},
}

@article{baumeier_hepatic_2017,
	title = {Hepatic \textit{{DPP4}} {DNA} {Methylation} {Associates} {With} {Fatty} {Liver}},
	volume = {66},
	issn = {0012-1797, 1939-327X},
	url = {https://diabetesjournals.org/diabetes/article/66/1/25/40137/Hepatic-DPP4-DNA-Methylation-Associates-With-Fatty},
	doi = {10.2337/db15-1716},
	abstract = {Hepatic DPP4 expression is elevated in subjects with ectopic fat accumulation in the liver. However, whether increased dipeptidyl peptidase 4 (DPP4) is involved in the pathogenesis or is rather a consequence of metabolic disease is not known. We therefore studied the transcriptional regulation of hepatic Dpp4 in young mice prone to diet-induced obesity. Already at 6 weeks of age, expression of hepatic Dpp4 was increased in mice with high weight gain, independent of liver fat content. In the same animals, methylation of four intronic CpG sites was decreased, amplifying glucose-induced transcription of hepatic Dpp4. In older mice, hepatic triglyceride content was increased only in animals with elevated Dpp4 expression. Expression and release of DPP4 were markedly higher in the liver compared with adipose depots. Analysis of human liver biopsy specimens revealed a correlation of DPP4 expression and DNA methylation to stages of hepatosteatosis and nonalcoholic steatohepatitis. In summary, our results indicate a crucial role of the liver in participation to systemic DPP4 levels. Furthermore, the data show that glucose-induced expression of Dpp4 in the liver is facilitated by demethylation of the Dpp4 gene early in life. This might contribute to early deteriorations in hepatic function, which in turn result in metabolic disease such as hepatosteatosis later in life.},
	language = {en},
	number = {1},
	urldate = {2023-03-04},
	journal = {Diabetes},
	author = {Baumeier, Christian and Saussenthaler, Sophie and Kammel, Anne and Jähnert, Markus and Schlüter, Luisa and Hesse, Deike and Canouil, Mickaël and Lobbens, Stephane and Caiazzo, Robert and Raverdy, Violeta and Pattou, François and Nilsson, Emma and Pihlajamäki, Jussi and Ling, Charlotte and Froguel, Philippe and Schürmann, Annette and Schwenk, Robert W.},
	month = jan,
	year = {2017},
	pages = {25--35},
}

@article{yengo_variable_2016,
	title = {Variable {Clustering} in {High}-{Dimensional} {Linear} {Regression}: {The} {R} {Package} clere},
	volume = {8},
	issn = {2073-4859},
	shorttitle = {Variable {Clustering} in {High}-{Dimensional} {Linear} {Regression}},
	url = {https://journal.r-project.org/archive/2016/RJ-2016-006/index.html},
	doi = {10.32614/RJ-2016-006},
	language = {en},
	number = {1},
	urldate = {2023-03-04},
	journal = {The R Journal},
	author = {Yengo, Loïc and Jacques, Julien and Biernacki, Christophe and Canouil, Mickael},
	month = apr,
	year = {2016},
	pages = {92},
}

@article{folon_contribution_2023,
	title = {Contribution of heterozygous {PCSK1} variants to obesity and implications for precision medicine: a case-control study},
	volume = {11},
	issn = {22138587},
	shorttitle = {Contribution of heterozygous {PCSK1} variants to obesity and implications for precision medicine},
	url = {https://linkinghub.elsevier.com/retrieve/pii/S2213858722003928},
	doi = {10.1016/S2213-8587(22)00392-8},
	language = {en},
	number = {3},
	urldate = {2023-03-04},
	journal = {The Lancet Diabetes \& Endocrinology},
	author = {Folon, Lise and Baron, Morgane and Toussaint, Bénédicte and Vaillant, Emmanuel and Boissel, Mathilde and Scherrer, Victoria and Loiselle, Hélène and Leloire, Audrey and Badreddine, Alaa and Balkau, Beverley and Charpentier, Guillaume and Franc, Sylvia and Marre, Michel and Aboulouard, Soulaimane and Salzet, Michel and Canouil, Mickaël and Derhourhi, Mehdi and Froguel, Philippe and Bonnefond, Amélie},
	month = mar,
	year = {2023},
	pages = {182--190},
}

@article{wuttke_catalog_2019,
	title = {A catalog of genetic loci associated with kidney function from analyses of a million individuals},
	volume = {51},
	issn = {1546-1718},
	url = {https://doi.org/10.1038/s41588-019-0407-x},
	doi = {10.1038/s41588-019-0407-x},
	abstract = {Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through trans-ancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these, 147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.},
	number = {6},
	journal = {Nature Genetics},
	author = {Wuttke, Matthias and Li, Yong and Li, Man and Sieber, Karsten B. and Feitosa, Mary F. and Gorski, Mathias and Tin, Adrienne and Wang, Lihua and Chu, Audrey Y. and Hoppmann, Anselm and Kirsten, Holger and Giri, Ayush and Chai, Jin-Fang and Sveinbjornsson, Gardar and Tayo, Bamidele O. and Nutile, Teresa and Fuchsberger, Christian and Marten, Jonathan and Cocca, Massimiliano and Ghasemi, Sahar and Xu, Yizhe and Horn, Katrin and Noce, Damia and van der Most, Peter J. and Sedaghat, Sanaz and Yu, Zhi and Akiyama, Masato and Afaq, Saima and Ahluwalia, Tarunveer S. and Almgren, Peter and Amin, Najaf and Ärnlöv, Johan and Bakker, Stephan J. L. and Bansal, Nisha and Baptista, Daniela and Bergmann, Sven and Biggs, Mary L. and Biino, Ginevra and Boehnke, Michael and Boerwinkle, Eric and Boissel, Mathilde and Bottinger, Erwin P. and Boutin, Thibaud S. and Brenner, Hermann and Brumat, Marco and Burkhardt, Ralph and Butterworth, Adam S. and Campana, Eric and Campbell, Archie and Campbell, Harry and Canouil, Mickaël and Carroll, Robert J. and Catamo, Eulalia and Chambers, John C. and Chee, Miao-Ling and Chee, Miao-Li and Chen, Xu and Cheng, Ching-Yu and Cheng, Yurong and Christensen, Kaare and Cifkova, Renata and Ciullo, Marina and Concas, Maria Pina and Cook, James P. and Coresh, Josef and Corre, Tanguy and Sala, Cinzia Felicita and Cusi, Daniele and Danesh, John and Daw, E. Warwick and de Borst, Martin H. and De Grandi, Alessandro and de Mutsert, Renée and de Vries, Aiko P. J. and Degenhardt, Frauke and Delgado, Graciela and Demirkan, Ayse and Di Angelantonio, Emanuele and Dittrich, Katalin and Divers, Jasmin and Dorajoo, Rajkumar and Eckardt, Kai-Uwe and Ehret, Georg and Elliott, Paul and Endlich, Karlhans and Evans, Michele K. and Felix, Janine F. and Foo, Valencia Hui Xian and Franco, Oscar H. and Franke, Andre and Freedman, Barry I. and Freitag-Wolf, Sandra and Friedlander, Yechiel and Froguel, Philippe and Gansevoort, Ron T. and Gao, He and Gasparini, Paolo and Gaziano, J. Michael and Giedraitis, Vilmantas and Gieger, Christian and Girotto, Giorgia and Giulianini, Franco and Gögele, Martin and Gordon, Scott D. and Gudbjartsson, Daniel F. and Gudnason, Vilmundur and Haller, Toomas and Hamet, Pavel and Harris, Tamara B. and Hartman, Catharina A. and Hayward, Caroline and Hellwege, Jacklyn N. and Heng, Chew-Kiat and Hicks, Andrew A. and Hofer, Edith and Huang, Wei and Hutri-Kähönen, Nina and Hwang, Shih-Jen and Ikram, M. Arfan and Indridason, Olafur S. and Ingelsson, Erik and Ising, Marcus and Jaddoe, Vincent W. V. and Jakobsdottir, Johanna and Jonas, Jost B. and Joshi, Peter K. and Josyula, Navya Shilpa and Jung, Bettina and Kähönen, Mika and Kamatani, Yoichiro and Kammerer, Candace M. and Kanai, Masahiro and Kastarinen, Mika and Kerr, Shona M. and Khor, Chiea-Chuen and Kiess, Wieland and Kleber, Marcus E. and Koenig, Wolfgang and Kooner, Jaspal S. and Körner, Antje and Kovacs, Peter and Kraja, Aldi T. and Krajcoviechova, Alena and Kramer, Holly and Krämer, Bernhard K. and Kronenberg, Florian and Kubo, Michiaki and Kühnel, Brigitte and Kuokkanen, Mikko and Kuusisto, Johanna and La Bianca, Martina and Laakso, Markku and Lange, Leslie A. and Langefeld, Carl D. and Lee, Jeannette Jen-Mai and Lehne, Benjamin and Lehtimäki, Terho and Lieb, Wolfgang and Lim, Su-Chi and Lind, Lars and Lindgren, Cecilia M. and Liu, Jun and Liu, Jianjun and Loeffler, Markus and Loos, Ruth J. F. and Lucae, Susanne and Lukas, Mary Ann and Lyytikäinen, Leo-Pekka and Mägi, Reedik and Magnusson, Patrik K. E. and Mahajan, Anubha and Martin, Nicholas G. and Martins, Jade and März, Winfried and Mascalzoni, Deborah and Matsuda, Koichi and Meisinger, Christa and Meitinger, Thomas and Melander, Olle and Metspalu, Andres and Mikaelsdottir, Evgenia K. and Milaneschi, Yuri and Miliku, Kozeta and Mishra, Pashupati P. and Mohlke, Karen L. and Mononen, Nina and Montgomery, Grant W. and Mook-Kanamori, Dennis O. and Mychaleckyj, Josyf C. and Nadkarni, Girish N. and Nalls, Mike A. and Nauck, Matthias and Nikus, Kjell and Ning, Boting and Nolte, Ilja M. and Noordam, Raymond and O’Connell, Jeffrey and O’Donoghue, Michelle L. and Olafsson, Isleifur and Oldehinkel, Albertine J. and Orho-Melander, Marju and Ouwehand, Willem H. and Padmanabhan, Sandosh and Palmer, Nicholette D. and Palsson, Runolfur and Penninx, Brenda W. J. H. and Perls, Thomas and Perola, Markus and Pirastu, Mario and Pirastu, Nicola and Pistis, Giorgio and Podgornaia, Anna I. and Polasek, Ozren and Ponte, Belen and Porteous, David J. and Poulain, Tanja and Pramstaller, Peter P. and Preuss, Michael H. and Prins, Bram P. and Province, Michael A. and Rabelink, Ton J. and Raffield, Laura M. and Raitakari, Olli T. and Reilly, Dermot F. and Rettig, Rainer and Rheinberger, Myriam and Rice, Kenneth M. and Ridker, Paul M. and Rivadeneira, Fernando and Rizzi, Federica and Roberts, David J. and Robino, Antonietta and Rossing, Peter and Rudan, Igor and Rueedi, Rico and Ruggiero, Daniela and Ryan, Kathleen A. and Saba, Yasaman and Sabanayagam, Charumathi and Salomaa, Veikko and Salvi, Erika and Saum, Kai-Uwe and Schmidt, Helena and Schmidt, Reinhold and Schöttker, Ben and Schulz, Christina-Alexandra and Schupf, Nicole and Shaffer, Christian M. and Shi, Yuan and Smith, Albert V. and Smith, Blair H. and Soranzo, Nicole and Spracklen, Cassandra N. and Strauch, Konstantin and Stringham, Heather M. and Stumvoll, Michael and Svensson, Per O. and Szymczak, Silke and Tai, E-Shyong and Tajuddin, Salman M. and Tan, Nicholas Y. Q. and Taylor, Kent D. and Teren, Andrej and Tham, Yih-Chung and Thiery, Joachim and Thio, Chris H. L. and Thomsen, Hauke and Thorleifsson, Gudmar and Toniolo, Daniela and Tönjes, Anke and Tremblay, Johanne and Tzoulaki, Ioanna and Uitterlinden, André G. and Vaccargiu, Simona and van Dam, Rob M. and van der Harst, Pim and van Duijn, Cornelia M. and Velez Edward, Digna R. and Verweij, Niek and Vogelezang, Suzanne and Völker, Uwe and Vollenweider, Peter and Waeber, Gerard and Waldenberger, Melanie and Wallentin, Lars and Wang, Ya Xing and Wang, Chaolong and Waterworth, Dawn M. and Bin Wei, Wen and White, Harvey and Whitfield, John B. and Wild, Sarah H. and Wilson, James F. and Wojczynski, Mary K. and Wong, Charlene and Wong, Tien-Yin and Xu, Liang and Yang, Qiong and {Lifelines Cohort Study} and {V. A. Million Veteran Program}},
	month = jun,
	year = {2019},
	pages = {957--972},
}

@article{slieker_identification_2023,
	title = {Identification of biomarkers for glycaemic deterioration in type 2 diabetes},
	volume = {14},
	issn = {2041-1723},
	url = {https://www.nature.com/articles/s41467-023-38148-7},
	doi = {10.1038/s41467-023-38148-7},
	abstract = {Abstract
            We identify biomarkers for disease progression in three type 2 diabetes cohorts encompassing 2,973 individuals across three molecular classes, metabolites, lipids and proteins. Homocitrulline, isoleucine and 2-aminoadipic acid, eight triacylglycerol species, and lowered sphingomyelin 42:2;2 levels are predictive of faster progression towards insulin requirement. Of {\textasciitilde}1,300 proteins examined in two cohorts, levels of GDF15/MIC-1, IL-18Ra, CRELD1, NogoR, FAS, and ENPP7 are associated with faster progression, whilst SMAC/DIABLO, SPOCK1 and HEMK2 predict lower progression rates. In an external replication, proteins and lipids are associated with diabetes incidence and prevalence. NogoR/RTN4R injection improved glucose tolerance in high fat-fed male mice but impaired it in male db/db mice. High NogoR levels led to islet cell apoptosis, and IL-18R antagonised inflammatory IL-18 signalling towards nuclear factor kappa-B in vitro. This comprehensive, multi-disciplinary approach thus identifies biomarkers with potential prognostic utility, provides evidence for possible disease mechanisms, and identifies potential therapeutic avenues to slow diabetes progression.},
	language = {en},
	number = {1},
	urldate = {2023-05-12},
	journal = {Nature Communications},
	author = {Slieker, Roderick C. and Donnelly, Louise A. and Akalestou, Elina and Lopez-Noriega, Livia and Melhem, Rana and Güneş, Ayşim and Abou Azar, Frederic and Efanov, Alexander and Georgiadou, Eleni and Muniangi-Muhitu, Hermine and Sheikh, Mahsa and Giordano, Giuseppe N. and Åkerlund, Mikael and Ahlqvist, Emma and Ali, Ashfaq and Banasik, Karina and Brunak, Søren and Barovic, Marko and Bouland, Gerard A. and Burdet, Frédéric and Canouil, Mickaël and Dragan, Iulian and Elders, Petra J. M. and Fernandez, Celine and Festa, Andreas and Fitipaldi, Hugo and Froguel, Phillippe and Gudmundsdottir, Valborg and Gudnason, Vilmundur and Gerl, Mathias J. and van der Heijden, Amber A. and Jennings, Lori L. and Hansen, Michael K. and Kim, Min and Leclerc, Isabelle and Klose, Christian and Kuznetsov, Dmitry and Mansour Aly, Dina and Mehl, Florence and Marek, Diana and Melander, Olle and Niknejad, Anne and Ottosson, Filip and Pavo, Imre and Duffin, Kevin and Syed, Samreen K. and Shaw, Janice L. and Cabrera, Over and Pullen, Timothy J. and Simons, Kai and Solimena, Michele and Suvitaival, Tommi and Wretlind, Asger and Rossing, Peter and Lyssenko, Valeriya and Legido Quigley, Cristina and Groop, Leif and Thorens, Bernard and Franks, Paul W. and Lim, Gareth E. and Estall, Jennifer and Ibberson, Mark and Beulens, Joline W. J. and ’t Hart, Leen M and Pearson, Ewan R. and Rutter, Guy A.},
	month = may,
	year = {2023},
	pages = {2533},
}

@article{orioli_identification_2023,
	title = {Identification of myokines susceptible to improve glucose homeostasis after bariatric surgery},
	volume = {189},
	issn = {0804-4643, 1479-683X},
	url = {https://academic.oup.com/ejendo/article/189/3/409/7252679},
	doi = {10.1093/ejendo/lvad122},
	abstract = {Abstract
            
              Importance and Objective
              The identification of myokines susceptible to improve glucose homeostasis following bariatric surgery could lead to new therapeutic approaches for type 2 diabetes.
            
            
              Methods
              Changes in the homeostasis model assessment (HOMA) test were assessed in patients before and 3 months after bariatric surgery. Changes in myokines expression and circulating levels were assessed using real-time quantitative polymerase chain reaction (RT-qPCR) and enzyme-linked immunosorbent assay (ELISA). Myokines known to regulate glucose homeostasis were identified using literature (targeted study) and putative myokines using RNA-sequencing (untargeted study). A linear regression analysis adjusted for age and sex was used to search for associations between changes in the HOMA test and changes in myokines.
            
            
              Results
              In the targeted study, brain-derived neurotrophic factor (BDNF) expression was upregulated (+30\%, P = .006) while BDNF circulating levels were decreased (−12\%, P = .001). Upregulated BDNF expression was associated with decreased HOMA of insulin resistance (HOMA-IR) (adjusted estimate [95\% confidence interval \{CI\}]: −0.51 [−0.88 to −0.13], P = .010). Decreased BDNF serum levels were associated with decreased HOMA of beta-cell function (HOMA-B) (adjusted estimate [95\% CI] = 0.002 [0.00002-0.0031], P = .046). In the untargeted study, upregulated putative myokines included XYLT1 (+64\%, P \< .001), LGR5 (+57, P\< .001), and SPINK5 (+46\%, P \< .001). Upregulated LGR5 was associated with decreased HOMA-IR (adjusted estimate [95\% CI] = −0.50 [−0.86 to −0.13], P = .009). Upregulated XYLT1 and SPINK5 were associated with increased HOMA of insulin sensitivity (HOMA-S) (respectively, adjusted estimate [95\% CI] = 109.1 [28.5-189.8], P = .009 and 16.5 [0.87-32.19], P = .039).
            
            
              Conclusions
              Improved glucose homeostasis following bariatric surgery is associated with changes in myokines expression and circulating levels. In particular, upregulation of BDNF, XYLT1, SPINK5, and LGR5 is associated with improved insulin sensitivity. These results suggest that these myokines could contribute to improved glucose homeostasis following bariatric surgery.
            
            
              Study registration
              NCT03341793 on ClinicalTrials.gov (https://clinicaltrials.gov/).},
	language = {en},
	number = {3},
	urldate = {2023-10-22},
	journal = {European Journal of Endocrinology},
	author = {Orioli, Laura and Canouil, Mickaël and Sawadogo, Kiswendsida and Ning, Lijiao and Deldicque, Louise and Lause, Pascale and de Barsy, Marie and Froguel, Philippe and Loumaye, Audrey and Deswysen, Yannick and Navez, Benoit and Bonnefond, Amélie and Thissen, Jean-Paul},
	month = sep,
	year = {2023},
	pages = {409--421},
}

@article{meulebrouck_functional_2024,
	title = {Functional genetics reveals the contribution of delta opioid receptor to type 2 diabetes and beta-cell function},
	volume = {15},
	issn = {2041-1723},
	url = {https://www.nature.com/articles/s41467-024-51004-6},
	doi = {10.1038/s41467-024-51004-6},
	language = {en},
	number = {1},
	urldate = {2024-08-11},
	journal = {Nature Communications},
	author = {Meulebrouck, Sarah and Merrheim, Judith and Queniat, Gurvan and Bourouh, Cyril and Derhourhi, Mehdi and Boissel, Mathilde and Yi, Xiaoyan and Badreddine, Alaa and Boutry, Raphaël and Leloire, Audrey and Toussaint, Bénédicte and Amanzougarene, Souhila and Vaillant, Emmanuel and Durand, Emmanuelle and Loiselle, Hélène and Huyvaert, Marlène and Dechaume, Aurélie and Scherrer, Victoria and Marchetti, Piero and Balkau, Beverley and Charpentier, Guillaume and Franc, Sylvia and Marre, Michel and Roussel, Ronan and Scharfmann, Raphaël and Cnop, Miriam and Canouil, Mickaël and Baron, Morgane and Froguel, Philippe and Bonnefond, Amélie},
	month = aug,
	year = {2024},
	pages = {6627},
}

@article{suzuki_genetic_2024,
	title = {Genetic drivers of heterogeneity in type 2 diabetes pathophysiology},
	volume = {627},
	issn = {0028-0836, 1476-4687},
	url = {https://www.nature.com/articles/s41586-024-07019-6},
	doi = {10.1038/s41586-024-07019-6},
	abstract = {Abstract
            
              Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes
              1,2
              and molecular mechanisms that are often specific to cell type
              3,4
              . Here, to characterize the genetic contribution to these processes across ancestry groups, we aggregate genome-wide association study data from 2,535,601 individuals (39.7\% not of European ancestry), including 428,452 cases of T2D. We identify 1,289 independent association signals at genome-wide significance (
              P
               {\textless} 5 × 10
              −8
              ) that map to 611 loci, of which 145 loci are, to our knowledge, previously unreported. We define eight non-overlapping clusters of T2D signals that are characterized by distinct profiles of cardiometabolic trait associations. These clusters are differentially enriched for cell-type-specific regions of open chromatin, including pancreatic islets, adipocytes, endothelial cells and enteroendocrine cells. We build cluster-specific partitioned polygenic scores
              5
              in a further 279,552 individuals of diverse ancestry, including 30,288 cases of T2D, and test their association with T2D-related vascular outcomes. Cluster-specific partitioned polygenic scores are associated with coronary artery disease, peripheral artery disease and end-stage diabetic nephropathy across ancestry groups, highlighting the importance of obesity-related processes in the development of vascular outcomes. Our findings show the value of integrating multi-ancestry genome-wide association study data with single-cell epigenomics to disentangle the aetiological heterogeneity that drives the development and progression of T2D. This might offer a route to optimize global access to genetically informed diabetes care.},
	language = {en},
	number = {8003},
	urldate = {2024-08-11},
	journal = {Nature},
	author = {Suzuki, Ken and Hatzikotoulas, Konstantinos and Southam, Lorraine and Taylor, Henry J. and Yin, Xianyong and Lorenz, Kim M. and Mandla, Ravi and Huerta-Chagoya, Alicia and Melloni, Giorgio E. M. and Kanoni, Stavroula and Rayner, Nigel W. and Bocher, Ozvan and Arruda, Ana Luiza and Sonehara, Kyuto and Namba, Shinichi and Lee, Simon S. K. and Preuss, Michael H. and Petty, Lauren E. and Schroeder, Philip and Vanderwerff, Brett and Kals, Mart and Bragg, Fiona and Lin, Kuang and Guo, Xiuqing and Zhang, Weihua and Yao, Jie and Kim, Young Jin and Graff, Mariaelisa and Takeuchi, Fumihiko and Nano, Jana and Lamri, Amel and Nakatochi, Masahiro and Moon, Sanghoon and Scott, Robert A. and Cook, James P. and Lee, Jung-Jin and Pan, Ian and Taliun, Daniel and Parra, Esteban J. and Chai, Jin-Fang and Bielak, Lawrence F. and Tabara, Yasuharu and Hai, Yang and Thorleifsson, Gudmar and Grarup, Niels and Sofer, Tamar and Wuttke, Matthias and Sarnowski, Chloé and Gieger, Christian and Nousome, Darryl and Trompet, Stella and Kwak, Soo-Heon and Long, Jirong and Sun, Meng and Tong, Lin and Chen, Wei-Min and Nongmaithem, Suraj S. and Noordam, Raymond and Lim, Victor J. Y. and Tam, Claudia H. T. and Joo, Yoonjung Yoonie and Chen, Chien-Hsiun and Raffield, Laura M. and Prins, Bram Peter and Nicolas, Aude and Yanek, Lisa R. and Chen, Guanjie and Brody, Jennifer A. and Kabagambe, Edmond and An, Ping and Xiang, Anny H. and Choi, Hyeok Sun and Cade, Brian E. and Tan, Jingyi and Broadaway, K. Alaine and Williamson, Alice and Kamali, Zoha and Cui, Jinrui and Thangam, Manonanthini and Adair, Linda S. and Adeyemo, Adebowale and Aguilar-Salinas, Carlos A. and Ahluwalia, Tarunveer S. and Anand, Sonia S. and Bertoni, Alain and Bork-Jensen, Jette and Brandslund, Ivan and Buchanan, Thomas A. and Burant, Charles F. and Butterworth, Adam S. and Canouil, Mickaël and Chan, Juliana C. N. and Chang, Li-Ching and Chee, Miao-Li and Chen, Ji and Chen, Shyh-Huei and Chen, Yuan-Tsong and Chen, Zhengming and Chuang, Lee-Ming and Cushman, Mary and Danesh, John and Das, Swapan K. and De Silva, H. Janaka and Dedoussis, George and Dimitrov, Latchezar and Doumatey, Ayo P. and Du, Shufa and Duan, Qing and Eckardt, Kai-Uwe and Emery, Leslie S. and Evans, Daniel S. and Evans, Michele K. and Fischer, Krista and Floyd, James S. and Ford, Ian and Franco, Oscar H. and Frayling, Timothy M. and Freedman, Barry I. and Genter, Pauline and Gerstein, Hertzel C. and Giedraitis, Vilmantas and González-Villalpando, Clicerio and González-Villalpando, Maria Elena and Gordon-Larsen, Penny and Gross, Myron and Guare, Lindsay A. and Hackinger, Sophie and Hakaste, Liisa and Han, Sohee and Hattersley, Andrew T. and Herder, Christian and Horikoshi, Momoko and Howard, Annie-Green and Hsueh, Willa and Huang, Mengna and Huang, Wei and Hung, Yi-Jen and Hwang, Mi Yeong and Hwu, Chii-Min and Ichihara, Sahoko and Ikram, Mohammad Arfan and Ingelsson, Martin and Islam, Md. Tariqul and Isono, Masato and Jang, Hye-Mi and Jasmine, Farzana and Jiang, Guozhi and Jonas, Jost B. and Jørgensen, Torben and Kamanu, Frederick K. and Kandeel, Fouad R. and Kasturiratne, Anuradhani and Katsuya, Tomohiro and Kaur, Varinderpal and Kawaguchi, Takahisa and Keaton, Jacob M. and Kho, Abel N. and Khor, Chiea-Chuen and Kibriya, Muhammad G. and Kim, Duk-Hwan and Kronenberg, Florian and Kuusisto, Johanna and Läll, Kristi and Lange, Leslie A. and Lee, Kyung Min and Lee, Myung-Shik and Lee, Nanette R. and Leong, Aaron and Li, Liming and Li, Yun and Li-Gao, Ruifang and Ligthart, Symen and Lindgren, Cecilia M. and Linneberg, Allan and Liu, Ching-Ti and Liu, Jianjun and Locke, Adam E. and Louie, Tin and Luan, Jian’an and Luk, Andrea O. and Luo, Xi and Lv, Jun and Lynch, Julie A. and Lyssenko, Valeriya and Maeda, Shiro and Mamakou, Vasiliki and Mansuri, Sohail Rafik and Matsuda, Koichi and Meitinger, Thomas and Melander, Olle and Metspalu, Andres and Mo, Huan and Morris, Andrew D. and Moura, Filipe A. and Nadler, Jerry L. and Nalls, Michael A. and Nayak, Uma and Ntalla, Ioanna and Okada, Yukinori and Orozco, Lorena and Patel, Sanjay R. and Patil, Snehal and Pei, Pei and Pereira, Mark A. and Peters, Annette and Pirie, Fraser J. and Polikowsky, Hannah G. and Porneala, Bianca and Prasad, Gauri and Rasmussen-Torvik, Laura J. and Reiner, Alexander P. and Roden, Michael and Rohde, Rebecca and Roll, Katheryn and Sabanayagam, Charumathi and Sandow, Kevin and Sankareswaran, Alagu and Sattar, Naveed and Schönherr, Sebastian and Shahriar, Mohammad and Shen, Botong and Shi, Jinxiu and Shin, Dong Mun and Shojima, Nobuhiro and Smith, Jennifer A. and So, Wing Yee and Stančáková, Alena and Steinthorsdottir, Valgerdur and Stilp, Adrienne M. and Strauch, Konstantin and Taylor, Kent D. and Thorand, Barbara and Thorsteinsdottir, Unnur and Tomlinson, Brian and Tran, Tam C. and Tsai, Fuu-Jen and Tuomilehto, Jaakko and Tusie-Luna, Teresa and Udler, Miriam S. and Valladares-Salgado, Adan and Van Dam, Rob M. and Van Klinken, Jan B. and Varma, Rohit and Wacher-Rodarte, Niels and Wheeler, Eleanor and Wickremasinghe, Ananda R. and Van Dijk, Ko Willems and Witte, Daniel R. and Yajnik, Chittaranjan S. and Yamamoto, Ken and Yamamoto, Kenichi and Yoon, Kyungheon and Yu, Canqing and Yuan, Jian-Min and Yusuf, Salim and Zawistowski, Matthew and Zhang, Liang and Zheng, Wei and {VA Million Veteran Program} and {AMED GRIFIN Diabetes Initiative Japan} and {Biobank Japan Project} and {Penn Medicine BioBank} and {Regeneron Genetics Center} and {Genes \& Health Research Team} and Kanona, Stavroula and Van Heel, David A. and {eMERGE Consortium} and {International Consortium of Blood Pressure (ICBP)} and {Meta-Analyses of Glucose and Insulin-Related Traits Consortium (MAGIC)} and Raffel, Leslie J. and Igase, Michiya and Ipp, Eli and Redline, Susan and Cho, Yoon Shin and Lind, Lars and Province, Michael A. and Fornage, Myriam and Hanis, Craig L. and Ingelsson, Erik and Zonderman, Alan B. and Psaty, Bruce M. and Wang, Ya-Xing and Rotimi, Charles N. and Becker, Diane M. and Matsuda, Fumihiko and Liu, Yongmei and Yokota, Mitsuhiro and Kardia, Sharon L. R. and Peyser, Patricia A. and Pankow, James S. and Engert, James C. and Bonnefond, Amélie and Froguel, Philippe and Wilson, James G. and Sheu, Wayne H. H. and Wu, Jer-Yuarn and Hayes, M. Geoffrey and Ma, Ronald C. W. and Wong, Tien-Yin and Mook-Kanamori, Dennis O. and Tuomi, Tiinamaija and Chandak, Giriraj R. and Collins, Francis S. and Bharadwaj, Dwaipayan and Paré, Guillaume and Sale, Michèle M. and Ahsan, Habibul and Motala, Ayesha A. and Shu, Xiao-Ou and Park, Kyong-Soo and Jukema, J. Wouter and Cruz, Miguel and Chen, Yii-Der Ida and Rich, Stephen S. and McKean-Cowdin, Roberta and Grallert, Harald and Cheng, Ching-Yu and Ghanbari, Mohsen and Tai, E-Shyong and Dupuis, Josee and Kato, Norihiro and Laakso, Markku and Köttgen, Anna and Koh, Woon-Puay and Bowden, Donald W. and Palmer, Colin N. A. and Kooner, Jaspal S. and Kooperberg, Charles and Liu, Simin and North, Kari E. and Saleheen, Danish and Hansen, Torben and Pedersen, Oluf and Wareham, Nicholas J. and Lee, Juyoung and Kim, Bong-Jo and Millwood, Iona Y. and Walters, Robin G. and Stefansson, Kari and Ahlqvist, Emma and Goodarzi, Mark O. and Mohlke, Karen L. and Langenberg, Claudia and Haiman, Christopher A. and Loos, Ruth J. F. and Florez, Jose C. and Rader, Daniel J. and Ritchie, Marylyn D. and Zöllner, Sebastian and Mägi, Reedik and Marston, Nicholas A. and Ruff, Christian T. and Van Heel, David A. and Finer, Sarah and Denny, Joshua C. and Yamauchi, Toshimasa and Kadowaki, Takashi and Chambers, John C. and Ng, Maggie C. Y. and Sim, Xueling and Below, Jennifer E. and Tsao, Philip S. and Chang, Kyong-Mi and McCarthy, Mark I. and Meigs, James B. and Mahajan, Anubha and Spracklen, Cassandra N. and Mercader, Josep M. and Boehnke, Michael and Rotter, Jerome I. and Vujkovic, Marijana and Voight, Benjamin F. and Morris, Andrew P. and Zeggini, Eleftheria},
	month = mar,
	year = {2024},
	pages = {347--357},
}

@article{maurin_pnliprp1_2024,
	title = {\textit{{PNLIPRP1}} hypermethylation in exocrine pancreas links type 2 diabetes and cholesterol metabolism},
	issn = {0012-1797, 1939-327X},
	url = {https://diabetesjournals.org/diabetes/article/doi/10.2337/db24-0215/157087/PNLIPRP1-hypermethylation-in-exocrine-pancreas},
	doi = {10.2337/db24-0215},
	abstract = {We postulated that T2D predisposes to exocrine pancreatic diseases through (epi)genetic mechanisms. We explored the methylome (methylationEPIC arrays) of the exocrine pancreas of 141 donors, assessing the impact of T2D. Epigenome-wide association study (EWAS) for T2D identified a hypermethylation in an enhancer of the Pancreatic-Lipase-Related-Protein 1 (PNLIPRP1) gene, associated with decreased PNLIPRP1 expression. PNLIPRP1 null variants (in 191K participants of the UKbiobank) associated with elevated glycemia and LDL-cholesterol. Mendelian Randomisation using 2.5M SNP OmniArrays in 111 donors evidenced that T2D was causal of PNLIPRP1 hypermethylation, which was causal for LDL-cholesterol. Further AR42J rat exocrine cell studies demonstrated that Pnliprp1 knockdown induced acinar-to-ductal metaplasia, a known pre-pancreatic cancer state, and increased cholesterol levels, reversible with statin. This (epi)genetic study suggests a role for PNLIPRP1 in human metabolism and on exocrine pancreas function with potential implications for pancreatic diseases.},
	language = {en},
	urldate = {2024-09-13},
	journal = {Diabetes},
	author = {Maurin, Lucas and Marselli, Lorella and Boissel, Mathilde and Ning, Lijiao and Boutry, Raphael and Fernandes, Justine and Suleiman, Mara and De Luca, Carmela and Leloire, Audrey and Pascat, Vincent and Toussaint, Bénédicte and Amanzougarene, Souhila and Derhourhi, Mehdi and Jörns, Anne and Lenzen, Sigurd and Pattou, François and Kerr-Conte, Julie and Canouil, Mickaël and Marchetti, Piero and Bonnefond, Amélie and Froguel, Philippe and Khamis, Amna},
	month = aug,
	year = {2024},
	pages = {db240215},
}

@article{burrows_framework_2024,
	title = {A framework for conducting {GWAS} using repeated measures data with an application to childhood {BMI}},
	volume = {15},
	copyright = {All rights reserved},
	issn = {2041-1723},
	url = {https://www.nature.com/articles/s41467-024-53687-3},
	doi = {10.1038/s41467-024-53687-3},
	abstract = {Abstract
            
              Genetic effects on changes in human traits over time are understudied and may have important pathophysiological impact. We propose a framework that enables data quality control, implements mixed models to evaluate trajectories of change in traits, and estimates phenotypes to identify age-varying genetic effects in GWAS. Using childhood BMI as an example trait, we included 71,336 participants from six cohorts and estimated the slope and area under the BMI curve within four time periods (infancy, early childhood, late childhood and adolescence) for each participant, in addition to the age and BMI at the adiposity peak and the adiposity rebound. GWAS of the 12 estimated phenotypes identified 28 genome-wide significant variants at 13 loci, one of which (in
              DAOA)
              has not been previously associated with childhood or adult BMI. Genetic studies of changes in human traits over time could uncover unique biological mechanisms influencing quantitative traits.},
	language = {en},
	number = {1},
	urldate = {2024-11-28},
	journal = {Nature Communications},
	author = {Burrows, Kimberley and Heiskala, Anni and Bradfield, Jonathan P. and Balkhiyarova, Zhanna and Ning, Lijiao and Boissel, Mathilde and Chan, Yee-Ming and Froguel, Philippe and Bonnefond, Amelie and Hakonarson, Hakon and Alves, Alexessander Couto and Lawlor, Deborah A. and Kaakinen, Marika and Järvelin, Marjo-Riitta and Grant, Struan F. A. and Tilling, Kate and Prokopenko, Inga and Sebert, Sylvain and Canouil, Mickaël and Warrington, Nicole M.},
	month = nov,
	year = {2024},
	pages = {10067},
}