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Perspective
Nature Genetics  36, S54 - S60 (2004)
Published online: ; | doi:10.1038/ng1440

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

E J Parra1, R A Kittles2 & M D Shriver3, 

1  Department of Anthropology, University of Toronto at Mississauga, Mississauga, Ontario L5L 1C6, Canada.

2  Human Cancer Genetics, Comprehensive Cancer Center, Ohio State University, Columbus, Ohio 43210, USA.

3  Department of Anthropology, Pennsylvania State University, 409 Carpenter Building, University Park, Pennsylvania 16802, USA.

Correspondence should be addressed to mds17@psu.edu
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, rho = 0.633) to weak (Mexico, rho = 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.

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Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
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