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. 2010 Mar 5;6(3):e1000867.
doi: 10.1371/journal.pgen.1000867.

Association of the OCA2 Polymorphism His615Arg With Melanin Content in East Asian Populations: Further Evidence of Convergent Evolution of Skin Pigmentation

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Free PMC article

Association of the OCA2 Polymorphism His615Arg With Melanin Content in East Asian Populations: Further Evidence of Convergent Evolution of Skin Pigmentation

Melissa Edwards et al. PLoS Genet. .
Free PMC article

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 for the amino acid histidine. An analysis of this non-synonymous polymorphism using several programs to predict potential functional effects provides additional support for the role of this SNP in skin pigmentation variation in East Asian populations. Our results are consistent with previous research indicating that evolution to lightly-pigmented skin occurred, at least in part, independently in Europe and East Asia.

Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Boxplot showing melanin index by rs1800414 genotype for the Canadian East Asian sample.
The top of the box is the 75th percentile, the bottom of the box is the 25th percentile and the line in the centre is the median. The lines extending from the box mark the highest and lowest melanin index measurements.

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