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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.

Author information

  • 1Perlegen Sciences, Mountain View, CA 94043, USA. renee_stokowski@perlegen.com

Abstract

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:
PMC2276347
Free PMC Article

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