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

• Type: Article in International Scientific Journal
• Date: 2013

Authors

Sandra Beleza (Author) Other; Nicholas A Johnson (Author) Other; Sophie I Candille (Author) Other; Devin M Absher (Author) Other; Marc A Coram (Author) Other; Jailson Lopes (Author) Other; Joana Campos (Author) Other; Isabel Ines Araujo (Author) Other; Tovi M Anderson (Author) Other; Bjarni J Vilhjalmsson (Author) Other; Magnus Nordborg (Author) Other; Antonio C E Correia e Silva (Author) Other; Mark D Shriver (Author) Other; Jorge Rocha (Author) FCUP; Gregory S Barsh (Author) Other; Hua Tang (Author) Other

Journal

Title: Plos Genetics

Vol. 9

Final page: e1003372

ISSN: 1553-7390

Publisher: Public Library of Science

Indexing

ISI Web of Knowledge - 99 Citations

Scopus - 108 Citations

Scientific classification

FOS: Natural sciences > Earth and related Environmental sciences

Other information

Authenticus ID: P-005-2SC

DOI: 10.1371/journal.pgen.1003372

Abstract (EN): 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 x 10(-62), SLC24A5 P = 9.6 x 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 x 10(-27), TYR P = 1.1 x 10(-9), APBA2[OCA2] P = 1.5 x 10(-8), SLC45A2 P = 6 x 10(-9)) for skin color that together account for 35% of the total variance, but the genetic component with the largest effect (similar to 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 similar to 70% of the estimated heritability.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 15