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

Nature Genetics volume 36, pages S54–S60 (2004) Cite this article

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.

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Figure 1: Global map of skin pigmentation levels.
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Figure 2: Distribution of melanin index values.
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Figure 3
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Figure 4
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Figure 5
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Acknowledgements

We thank all participants for their cooperation and many collaborators for their discussions and input, including J. Akey, C. Bonilla, G. Gutierrez, J. Fernández, T. Frudakis, I. Halder, R. Hamman, J. Marshall, J. Norris, B. Ferrell, C. Hoggart and P. McKeigue. This work was supported in part by grants from the US National Institutes of Health (National Institute of Diabetes and Digestive and Kidney Diseases and National Human Genome Research Institute) to M.D.S., Natural Sciences and Engineering Research Council of Canada to E.J.P., the US National Institutes of Health (National Center for Research Resources) and the US Department of Defense to R.A.K. and the US National Institutes of Health to J. Fernández.

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Authors and Affiliations

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

    E J Parra & M D Shriver

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

    R A Kittles

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

    M D Shriver

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  1. E J Parra
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  2. R A Kittles
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  3. M D Shriver
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Correspondence to M D Shriver.

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M.D.S. is a scientific consultant for DNAPrint Genomics.

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Parra, E., Kittles, R. & Shriver, M. Implications of correlations between skin color and genetic ancestry for biomedical research. Nat Genet 36 (Suppl 11), S54–S60 (2004). https://doi.org/10.1038/ng1440

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