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Implications of biogeography of human populations for 'race' and medicine

Nature Genetics volume 36, pages S21–S27 (2004) Cite this article

Abstract

In this review, we focus on the biogeographical distribution of genetic variation and address whether or not populations cluster according to the popular concept of 'race'. We show that racial classifications are inadequate descriptors of the distribution of genetic variation in our species. Although populations do cluster by broad geographic regions, which generally correspond to socially recognized races, the distribution of genetic variation is quasicontinuous in clinal patterns related to geography. The broad global pattern reflects the accumulation of genetic drift associated with a recent African origin of modern humans, followed by expansion out of Africa and across the rest of the globe. Because disease genes may be geographically restricted due to mutation, genetic drift, migration and natural selection, knowledge of individual ancestry will be important for biomedical studies. Identifiers based on race will often be insufficient.

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Figure 1: This pencil sketch of large-scale events abstractly illustrates the RAO model of human evolutionary history from ∼200–30 Kya.
The alternative text for this image may have been generated using AI.
Figure 2: Diversity within populations for 94 dinucleotide STRPs.
The alternative text for this image may have been generated using AI.
Figure 3: The average LD for 83 SNPs across 21 haplotypes for 32 populations.
The alternative text for this image may have been generated using AI.
Figure 4: A least-squares tree for 37 populations based on 80 independent loci (41 haplotyped loci, 36 biallelic loci and 3 STRPs) with ∼620 statistically independent alleles.
The alternative text for this image may have been generated using AI.

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Acknowledgements

We thank A. Pakstis for help with the analyses and graphic representations in the figures; B. Verrelli, F. Reed and J. Kidd for critical review of the manuscript; and the many hundreds of individuals who volunteered to give DNA samples for studies such as those reviewed here. This work was supported in part by grants from the US National Institutes of Health (to K.K.K.), by a contract from the National Institute of Diabetes, Digestive and Kidney Diseases (to K.K.K.), by a grant from the Alfred P. Sloan Foundation (to K.K.K.), by a grant from the National Science Foundation (to S.A.T.) and by the Burroughs Wellcome Fund and David and Lucile Packard Career Awards (to S.A.T.).

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  1. Department of Biology, Building #144, University of Maryland, College Park, 20742, Maryland, USA

    Sarah A Tishkoff

  2. Department of Genetics, Yale University School of Medicine, PO Box 208005, New Haven, 06520-8005, Connecticut, USA

    Kenneth K Kidd

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  1. Sarah A Tishkoff
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Correspondence to Sarah A Tishkoff or Kenneth K Kidd.

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Tishkoff, S., Kidd, K. Implications of biogeography of human populations for 'race' and medicine. Nat Genet 36 (Suppl 11), S21–S27 (2004). https://doi.org/10.1038/ng1438

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