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PLoS Genet. 2013 Mar;9(3):e1003372. doi: 10.1371/journal.pgen.1003372. Epub 2013 Mar 21.

Genetic architecture of skin and eye color in an African-European admixed population.

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1
Department of Genetics, Stanford University School of Medicine, Stanford, California, United States of America. sbeleza@stanford.edu

Abstract

Variation in human skin and eye color is substantial and especially apparent in admixed populations, yet the underlying genetic architecture is poorly understood because most genome-wide studies are based on individuals of European ancestry. We study pigmentary variation in 699 individuals from Cape Verde, where extensive West African/European admixture has given rise to a broad range in trait values and genomic ancestry proportions. We develop and apply a new approach for measuring eye color, and identify two major loci (HERC2[OCA2] P = 2.3 × 10(-62), SLC24A5 P = 9.6 × 10(-9)) that account for both blue versus brown eye color and varying intensities of brown eye color. We identify four major loci (SLC24A5 P = 5.4 × 10(-27), TYR P = 1.1 × 10(-9), APBA2[OCA2] P = 1.5 × 10(-8), SLC45A2 P = 6 × 10(-9)) for skin color that together account for 35% of the total variance, but the genetic component with the largest effect (~44%) is average genomic ancestry. Our results suggest that adjacent cis-acting regulatory loci for OCA2 explain the relationship between skin and eye color, and point to an underlying genetic architecture in which several genes of moderate effect act together with many genes of small effect to explain ~70% of the estimated heritability.

PMID:
23555287
PMCID:
PMC3605137
DOI:
10.1371/journal.pgen.1003372
[Indexed for MEDLINE]
Free PMC Article
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