Literature DB >> 17999355

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

Renee P Stokowski1, 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, David R Cox.   

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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Year:  2007        PMID： 17999355      PMCID： PMC2276347          DOI： 10.1086/522235

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  52 in total

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Journal:  Nature       Date:  2001-02-15       Impact factor: 49.962

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  114 in total

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6.  Rapid evolution of a skin-lightening allele in southern African KhoeSan.

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Review 7.  A HapMap harvest of insights into the genetics of common disease.

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8.  Rapid inexpensive genome-wide association using pooled whole blood.

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Review 9.  Human genetic variation and its contribution to complex traits.

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