Genome-wide association analysis of 17,019 Korean women identifies variants associated with facial pigmented spots.

Abstract Variation in skin pigmentation can be affected both by environmental factors and intrinsic factors such as age, gender, and genetic variation. Recent genome-wide association studies (GWASs) revealed that genetic variants of genes functionally related to a pigmentation pathway were associated with skin pigmentary traits. However, these GWAS focused on populations with European ancestry and only a few studies have been performed on Asian populations, limiting our understanding of the genetic basis of skin pigmentary traits in Asians. To evaluate the genetic variants associated with facial pigmented spots, we conducted a GWAS analysis of objectively measured facial pigmented spots in 17,019 Korean women. This large-scale GWAS identified several genomic loci that were significantly associated with facial pigmented spots (five previously reported loci and two previously unreported loci to our knowledge), which were detected by UV light; BNC2 at 9p22 (rs16935073; P-value = 2.11×10-46), PPARGC1B at 5q32 (rs32579; P-value = 9.04×10-42), 10q26 (rs11198112; P-value = 9.66×10-38), MC1R at 16q24 (rs2228479; P-value = 6.62×10-21), lnc01877 at 2q33 (rs12693889; P-value = 1.59×10-11), CDKN2B-AS1 at 9p21 (rs643319; P-value = 7.76×10-9), and MFSD12 at 19p13 (rs2240751; P-value = 9.70×10-9). Further functional characterization of the candidate genes needs to be done to fully evaluate their contribution to facial pigmented spots.