A genomewide association study of skin pigmentation in a South Asian population |
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| Authors: | Stokowski Renee P Pant P V Krishna Dadd Tony Fereday Amelia Hinds David A Jarman Carl Filsell Wendy Ginger Rebecca S Green Martin R van der Ouderaa Frans J Cox David R |
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| Institution: | Renee P. Stokowski, P. V. Krishna Pant, Tony Dadd, Amelia Fereday, David A. Hinds, Carl Jarman, Wendy Filsell, Rebecca S. Ginger, Martin R. Green, Frans J. van der Ouderaa, and David R. Cox |
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| 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. |
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