association of the oca2 polymorphism his615arg with melanin content in east asian populations further evidence of convergent evolution of skin pigmentation协会的oca2多态性his615arg黑色素含量东亚人群的进一步证据趋同进化的皮肤色素沉着.pdf

Association of the OCA2 Polymorphism His615Arg with Melanin Content in East Asian Populations: Further Evidence of Convergent Evolution of Skin Pigmentation 1 2 3 3 1 1 3 Melissa Edwards , Abigail Bigham , Jinze Tan , Shilin Li , Agnes Gozdzik , Kendra Ross , Li Jin , Esteban J. Parra1* 1 Department of Anthropology, University of Toronto at Mississauga, Mississauga, Ontario, Canada, 2 Department of Pediatrics, University of Washington, Seattle, Washington, United States of America, 3 School of Life Sciences, Fudan University, Shanghai, China Abstract The last decade has witnessed important advances in our understanding of the genetics of pigmentation in European populations, but very little is known about the genes involved in skin pigmentation variation in East Asian populations. Here, we present the results of a study evaluating the association of 10 Single Nucleotide Polymorphisms (SNPs) located within 5 pigmentation candidate genes (OCA2, DCT, ADAM17, ADAMTS20, and TYRP1) with skin pigmentation measured quantitatively in a sample of individuals of East Asian ancestry living in Canada. We show that the non-synonymous polymorphism rs1800414 (His615Arg) located within the OCA2 gene is significantly associated with skin pigmentation in this sample. We replicated this result in an independent sample of Chinese individuals of Han ancestry. This polymorphism is characterized by a derived allele that is present at a high frequency in East Asian populations, but is absent in other population groups. In both samples, individuals with the derived G allele, which codes for the amino acid arginine, show lower melanin levels than those with the ancestral A allele, which codes fo