Samsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Samsung Medical Center, Seoul, 06351, Republic of Korea.
Research and Innovation Center, CTO, LG Household & Healthcare (LG H&H), Seoul, 07795, Republic of Korea.
Nat Commun. 2024 Jun 7;15(1):4874. doi: 10.1038/s41467-024-49031-4.
Evidence for adaptation of human skin color to regional ultraviolet radiation suggests shared and distinct genetic variants across populations. However, skin color evolution and genetics in East Asians are understudied. We quantified skin color in 48,433 East Asians using image analysis and identified associated genetic variants and potential causal genes for skin color as well as their polygenic interplay with sun exposure. This genome-wide association study (GWAS) identified 12 known and 11 previously unreported loci and SNP-based heritability was 23-24%. Potential causal genes were determined through the identification of nonsynonymous variants, colocalization with gene expression in skin tissues, and expression levels in melanocytes. Genomic loci associated with pigmentation in East Asians substantially diverged from European populations, and we detected signatures of polygenic adaptation. This large GWAS for objectively quantified skin color in an East Asian population improves understanding of the genetic architecture and polygenic adaptation of skin color and prioritizes potential causal genes.
人类皮肤颜色对区域紫外线辐射的适应性证据表明，不同人群之间存在共同和独特的遗传变异。然而，东亚人的皮肤颜色进化和遗传学研究还很不足。我们使用图像分析对 48433 名东亚人进行了皮肤颜色量化，并确定了与皮肤颜色相关的遗传变异和潜在的因果基因，以及它们与阳光暴露的多基因相互作用。这项全基因组关联研究（GWAS）确定了 12 个已知和 11 个以前未报道的基因座，基于 SNP 的遗传率为 23-24%。通过鉴定非同义变异、与皮肤组织中基因表达的共定位以及黑素细胞中的表达水平，确定了潜在的因果基因。与东亚人色素沉着相关的基因组基因座与欧洲人群有很大的差异，我们检测到了多基因适应的特征。这项针对东亚人群客观量化皮肤颜色的大型 GWAS 提高了我们对皮肤颜色遗传结构和多基因适应的理解，并确定了潜在的因果基因。
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