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    Am J Hum Genet. 2007 Dec;81(6):1119-32. Epub 2007 Oct 15.

    A genomewide association study of skin pigmentation in a South Asian population.

    Stokowski RP, Pant PV, Dadd T, Fereday A, Hinds DA, Jarman C, Filsell W, Ginger RS, Green MR, van der Ouderaa FJ, Cox DR.

    Perlegen Sciences, Mountain View, CA 94043, USA. renee_stokowski@perlegen.com

    We have conducted a multistage genomewide association study, using 1,620,742 single-nucleotide polymorphisms to systematically investigate the genetic factors influencing intrinsic skin pigmentation in a population of South Asian descent. Polymorphisms in three genes--SLC24A5, TYR, and SLC45A2--yielded highly significant replicated associations with skin-reflectance measurements, an indirect measure of melanin content in the skin. The associations detected in these three genes, in an additive manner, collectively account for a large fraction of the natural variation of skin pigmentation in a South Asian population. Our study is the first to interrogate polymorphisms across the genome, to find genetic determinants of the natural variation of skin pigmentation within a human population.

    PMID: 17999355 [PubMed - indexed for MEDLINE]

    PMCID: 2276347

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