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Bjarni Jóhann Vilhjálmsson

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

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

  • Sandra Beleza, Ukendt
  • Nicholas A Johnson, Ukendt
  • Sophie I Candille, Ukendt
  • Devin M Absher, Ukendt
  • Marc A Coram, Ukendt
  • Jailson Lopes, Ukendt
  • Joana Campos, Ukendt
  • Isabel Inês Araújo, Ukendt
  • Tovi M Anderson, Ukendt
  • Bjarni Jóhann Vilhjálmsson
  • Magnus Nordborg
  • ,
  • António Correia E Silva, Ukendt
  • Mark D Shriver, Ukendt
  • Jorge Rocha, Ukendt
  • Gregory S Barsh, Ukendt
  • Hua Tang

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.

OriginalsprogEngelsk
TidsskriftPLoS genetics
Vol/bind9
Nummer3
Sider (fra-til)e1003372
ISSN1553-7404
DOI
StatusUdgivet - mar. 2013
Eksternt udgivetJa

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