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Genetic variation, classification and 'race'

Nature Genetics volume 36, pages S28–S33 (2004)Cite this article

Abstract

New genetic data has enabled scientists to re-examine the relationship between human genetic variation and 'race'. We review the results of genetic analyses that show that human genetic variation is geographically structured, in accord with historical patterns of gene flow and genetic drift. Analysis of many loci now yields reasonably accurate estimates of genetic similarity among individuals, rather than populations. Clustering of individuals is correlated with geographic origin or ancestry. These clusters are also correlated with some traditional concepts of race, but the correlations are imperfect because genetic variation tends to be distributed in a continuous, overlapping fashion among populations. Therefore, ancestry, or even race, may in some cases prove useful in the biomedical setting, but direct assessment of disease-related genetic variation will ultimately yield more accurate and beneficial information.

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Figure 1: A neighbor-joining network of population similarities, based on the frequencies of 100 Alu insertion polymorphisms.
Figure 2: A neighbor-joining tree of individual similarities, based on 60 STR polymorphisms72, 100 Alu insertion polymorphisms21 and 30 restriction site polymorphisms73.
Figure 3: Structure analysis.
Figure 4: A neighbor-joining tree formulated using the same methods as in Figure 2, based on polymorphisms in the 14.4-kb gene AGT.

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Acknowledgements

We thank M. Bamshad, A. Rogers, S. Watkins and D. Witherspoon for comments on this manuscript. This work was supported by grants from the US National Institutes of Health and the US National Science Foundation.

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  1. Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, 84112, Utah, USA

    Lynn B Jorde & Stephen P Wooding

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Correspondence to Lynn B Jorde.

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Jorde, L., Wooding, S. Genetic variation, classification and 'race'. Nat Genet 36 (Suppl 11), S28–S33 (2004). https://doi.org/10.1038/ng1435

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