Copyright © 2007 The American Society of Human Genetics. All rights reserved.
The American Journal of Human Genetics, Volume 81, Issue 6, 1119-1132, 1 December 2007
doi:10.1086/522235
Article
A Genomewide Association Study of Skin Pigmentation in a South Asian Population
Renee P. Stokowskia, 
, 
, P.V. Krishna Panta, Tony Daddb, Amelia Feredayb, David A. Hindsa, Carl Jarmanb, Wendy Filsellb, Rebecca S. Gingerb, Martin R. Greenb, Frans J. van der Ouderaab and David R. Coxa
a From Perlegen Sciences, Mountain View, CA
b and Unilever Corporate Research, Bedford, United Kingdom
Address for correspondence and reprints: Dr. Renee P. Stokowski, Perlegen Sciences, 2021 Stierlin Court, Mountain View, CA 94043Abstract
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.
Article Information
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