Genetic Architecture of Skin and Eye Color in an African-European Admixed Population

• DOI: 10.1371/journal.pgen.1003372
• Publication Date: 2013-03-21T20:51:31Z
• Authors: Sandra Beleza; Nicholas A. Johnson; Sophie I. Candille; Devin M. Absher; Marc A. Coram; Jailson Lopes; Joana Campos; Isabel Inês Araújo; Tovi M. Anderson; Bjarni J. Vilhjál...; Magnus Nordborg; António Correia e...; Mark D. Shriver; Jorge Rocha; Gregory S. Barsh; Hua Tang
• Keywords: Eye color; Genetic architecture; Cape verde

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