Implications of correlations between skin color and genetic ancestry for biomedical research

E. J. Parra, Rick A Kittles, M. D. Shriver

Research output: Contribution to journalArticle

142 Scopus citations

Abstract

Skin pigmentation is a central element of most discussions on 'race' and genetics. Research on the genetic basis of population variation in this phenotype, which is important in mediating both social experiences and environmental exposures, is sparse. We studied the relationship between pigmentation and ancestry in five populations of mixed ancestry with a wide range of pigmentation and ancestral proportions (African Americans from Washington, DC; African Caribbeans living in England; Puerto Ricans from New York; Mexicans from Guerrero; and Hispanics from San Luis Valley). The strength of the relationship between skin color and ancestry was quite variable, with the correlations ranging in intensity from moderately strong (Puerto Rico, ρ = 0.633) to weak (Mexico, ρ = 0.212). These results demonstrate the utility of ancestry-informative genetic markers and admixture methods and emphasize the need to be cautious when using pigmentation as a proxy of ancestry or when extrapolating the results from one admixed population to another.

Original languageEnglish (US)
JournalNature Genetics
Volume36
Issue number11 SUPPL. 1
DOIs
Publication statusPublished - Nov 2004
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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