Genome-Wide Association Study in Japanese Females Identifies Fifteen Novel Skin-Related Trait Associations

In a genome-wide association study (GWAS) involving 11,311 Japanese women, researchers identified genetic variations associated with various skin phenotypes, including age spots, freckles, double eyelids, hair texture, eyebrow thickness, hairiness, and sweating. The study revealed fifteen novel associations across twelve loci. Notable findings include novel signals for skin-spot traits near genes such as AKAP1/MSI2, BNC2, HSPA12A, PPARGC1B, and RAB11FIP2, with HSPA12A being the only protein-coding gene eQTL identified for these traits. A signal around EMX2 was linked to double eyelids and also associated with gene expression in brain tissue. The EDAR gene was associated with both eyebrow thickness and hair texture. Excessive hairiness was linked to eQTLs for genes TBX15, BCL2, GCC2, and LIMS1, while excessive sweating was associated with eQTLs for PPP1CB or PLB1 and a known ABCC11 variant. These findings contribute to the understanding of the genetic basis for skin-related traits.