Seo Jung Yeon, You Seung Won, Shin Joong-Gon, Kim Yunkwan, Park Sun Gyoo, Won Hong-Hee, Kang Nae Gyu
Department of Core Technology, R&D Center, LG Household & Healthcare (LG H&H), Seoul, South Korea.
Samsung Advanced Institute for Health Sciences and Technology (SAIHST), Samsung Medical Center, Sungkyunkwan University, Seoul, South Korea.
J Invest Dermatol. 2022 Apr;142(4):1077-1084. doi: 10.1016/j.jid.2021.08.440. Epub 2021 Oct 11.
Human skin color is largely determined by genetic factors. Recent GWASs have reported several genetic variants associated with skin color, mostly in European and African populations. In this study, we performed GWAS in 17,019 Korean women to identify genetic variants associated with facial skin color, quantitatively measured as CIELAB color index. We identified variants in three, one, and six genomic loci associated with facial skin color index L∗, a∗, and b∗ values, respectively, and replicated the associations (combined analysis P-value < 5.0 × 10). The significant loci included variants in known genes (OCA2 rs74653330, BNC2 rs16935073, rs72620727 near KITLG, and SLC6A17 rs6689641) and to our knowledge previously unreported genes (SCARB1 rs10846744, SYN2 rs12629034, and LINC00486 rs6543678). This is GWAS to elucidate genetic variants of facial skin color in a Korean female population. Further functional characterizations of the investigated genes are warranted to elucidate their contribution to skin pigmentation-related traits.
人类肤色很大程度上由遗传因素决定。近期的全基因组关联研究（GWAS）已报道了多个与肤色相关的基因变异，主要集中在欧洲和非洲人群中。在本研究中，我们对17019名韩国女性进行了GWAS，以确定与面部肤色相关的基因变异，面部肤色通过CIELAB颜色指数进行定量测量。我们分别在三个、一个和六个基因组位点中鉴定出与面部肤色指数L∗、a∗和b∗值相关的变异，并重复了这些关联（联合分析P值<5.0×10）。显著位点包括已知基因（OCA2 rs74653330、BNC2 rs16935073、KITLG附近的rs72620727以及SLC6A17 rs6689641）中的变异，以及据我们所知此前未报道的基因（SCARB1 rs10846744、SYN2 rs12629034和LINC00486 rs6543678）中的变异。这是一项旨在阐明韩国女性人群面部肤色基因变异的GWAS。有必要对所研究基因进行进一步的功能表征，以阐明它们对皮肤色素沉着相关性状的贡献。
