636 Identification and functional implication of variants associated with skin pigmentation in Chinese population

Skin pigmentation is a major feature of skin, and marker associated with beauty, health aging. Among the past genome-wide association studies on skin pigmentation, relatively small proportion have focused Chinese population. Large-scaled based measured phenotypes are particularly rare in other East Asian populations. In Jidong cohort study (N = 3,544), we low-exposed area colorimeter performed scans color melanin index. We identified loci 9p22.2, 10q26.11, 12q21.33, 15q12.6 15q13.1, validated independent cohorts. Functional annotation luciferase report assays revealed evidence for top SNP 12q21.33 functioning as an enhancer, regulating pigmentation-related gene TMTC3, although previous studies, this has been mapped to nearby KITLG, another well-known gene. From publicly available database, found further suggesting regulation pathway how TMTC3 altering pigmentation. This provided additional insight into genetics underlying