Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations.

ABSTRACT: Skin trait variation impacts quality-of-life, especially for females from the viewpoint of beauty. To investigate genetic variation related to these traits, we conducted a GWAS of various skin phenotypes in 11,311 Japanese women and identified associations for age-spots, freckles, double eyelids, straight/curly hair, eyebrow thickness, hairiness, and sweating. In silico annotation with RoadMap Epigenomics epigenetic state maps and colocalization analysis of GWAS and GTEx Project eQTL signals provided information about tissue specificity, candidate causal variants, and functional target genes. Novel signals for skin-spot traits neighboured AKAP1/MSI2 (rs17833789; P = 2.2 × 10^-9), BNC2 (rs10810635; P = 2.1 × 10^-22), HSPA12A (rs12259842; P = 7.1 × 10^-11), PPAR

SUBMITTER: Endo C 

PROVIDER: S-EPMC5997657 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature