keloid disease (KD) is a condition characterized by abnormal scar tissue growth over a wound, believed to be caused by excessive production of collagen and its decreased degradation in affected tissues. KD can be triggered by both light and severe wounds and its incidence varies greatly among human populations, with black and Hispanic populations having an incidence rate many times higher than white (Caucasian) populations.
It is well-established that KD has complex genetic and epigenetic causes. Several studies have shown links between certain loci and the appearance of keloids in different ethnic groups. For example: SNP rs873549 in chromosome 1 (1q41) in Japanese and Chinese people, SNP rs1511412 in FOXL2 across different Asian populations, and multiple SNPs in the NEDD4 gene in Egyptian, Chinese, and Japanese populations, while SNPs in the gene MYO1E were more strongly correlated with KD in African Americans. Moreover, different methylation patterns have been detected in KD tissues than normal tissues. Despite all this, the exact mechanism of keloid formation and its genetic causes remains unknown, with different studies showing different results across human populations. Current treatment of keloids is insufficient, with surgical removal often resulting in keloids reappearing, sometimes larger than before. We aim to use genetic variation between populations with high and low prevalence of KD to attempt to explain the causes of these differences and possible genetic causes of this disease.
Based on the review by Liu et al (2022), we list here the most significant genes and variants associated with KD in different human populations.
| Gene | Chromosome | SNP | Population |
|---|---|---|---|
| - | 1q41 | rs873549 | Japanese, Chinese |
| FOXL2 | 3q22.3-23 | rs1511412 | Japanese, Chinese |
| MYO1E | 15q21.2-22.3 | rs747722 | African American |
| MYO1E | 15q21.2-22.3 | rs28394564 | African American |
| NEDD4 | 15q21.3 | rs8032158 | Egyptian, Japanese |
La imagen tomada de Florida Keloid Center
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