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Biochem Genet. 2007 Aug;45(7-8):535-42. Epub 2007 Jun 15.

Distribution of two Asian-related coding SNPs in the MC1R and OCA2 genes.

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  • 1Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan. yuasai@grape.med.tottori-u.ac.jp


Very little is known about the genes and mechanisms affecting skin lightening in Asian populations. In this study, two coding SNPs, c.G1129A (R163Q) at the MC1R (melanocortin 1 receptor) gene and c.A1962G (H615R) at the OCA2 (oculocutaneous albinism type II) gene, were investigated in a total of 1,809 individuals in 16 populations from various areas. The Q163 and R615 alleles prevailed almost exclusively in East and Southeast Asian populations. Wright's F (ST) was 0.445 for R163Q and 0.385 for H615R among the 16 populations. The frequency of the Q163 allele was higher in Northeast Asians than in Southeast Asians. The frequency of the R615 allele was highest in South China and unlikely to be associated with levels of ultraviolet radiation. This allele may be a good marker to study the genetic affinity among East Asians because of its restricted distribution and marked difference in allele frequency.

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