However, most large-scale association studies have been performed in population samples with predominantly European ancestry. A more recent 23andMe GWAS report of 42 human phenotypes found multiple loci associated with skin-related traits such as male-pattern baldness, unibrow, chin dimples, and nose size 13. Associations were also identified for MC1R and ASIP with red hair color, TCHH and WNT10A with hair curl, and OCA2, IRF4, SLC45A2, SLC2 4A4, and MC1R with blond versus brown hair color.
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Several genome-wide association studies (GWAS) and candidate gene analyses in European ancestry population samples have identified variants associated with skin pigmentation in or near ASIP, HERC2, IRF4, MC1R, OCA2, SLC2 4A4, TYR, and BNC2 8, 9, 10, while IRF4, MC1R, ASIP, and BNC2 were also found to be associated with freckles and facial pigmented spots 11, 12. Recently, it was shown that the A481T and H615R alleles of OCA2, which is a causal gene for oculocutaneous albinism, are correlated with the skin color of Japanese people 5, 6, 7. The thickness of human hair fibers is very differentiated across world-wide populations, and almost a decade ago, researchers identified its association with a non-synonymous variant in the ectodysplasin A receptor gene ( EDAR) 3, 4.
Review of patient family histories has suggested that genetic factors may be related to some of these phenotypes, and a number of studies have revealed potential causative genes for certain skin-related phenotypes.
These concerns often impact an individual’s Quality-of-Life (QOL), and there have been major developments in medical cosmetic treatment and the cosmetic industry in recent years to address these problems. Investigations among Japanese women ( n~854 to 4345) for particular beauty problems revealed the following concerns broken down by individuals in particular age ranges and in order of significance: 20s) dry skin, large pores, and acne 30s) freckles, dry skin, and large pores 40s) freckles, wrinkles, and sagging skin and 50s and older) wrinkles, freckles, and sagging skin 1, 2. Skin phenotypes such as freckles, hairiness, and excessive sweating can be serious problems for some individuals. These findings will help dermatologic researchers better understand the genetic underpinnings of skin-related phenotypic variation in human populations. In total, we identified twelve loci containing sixteen association signals, of which fifteen were novel. A known hair morphology signal in EDAR was associated with both eyebrow thickness (rs3827760 P = 1.7 × 10 −9) and straight/curly hair (rs260643 P = 1.6 × 10 −103). Double edged eyelid analysis identified that a signal around EMX2 (rs12570134 P = 8.2 × 10 −15) was also associated with expression of EMX2 and the antisense-RNA gene EMX2 OS in brain putamen basal ganglia tissue. HSPA12 A SNPs were the only protein-coding gene eQTLs identified across skin-spot loci. 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. 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.
Skin trait variation impacts quality-of-life, especially for females from the viewpoint of beauty.