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Science 20 December 2002:
Vol. 298. no. 5602, pp. 2381 - 2385
DOI: 10.1126/science.1078311
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Reports

Genetic Structure of Human Populations

Noah A. Rosenberg,1* Jonathan K. Pritchard,2 James L. Weber,3 Howard M. Cann,4 Kenneth K. Kidd,5 Lev A. Zhivotovsky,6 Marcus W. Feldman7

We studied human population structure using genotypes at 377 autosomal microsatellite loci in 1056 individuals from 52 populations. Within-population differences among individuals account for 93 to 95% of genetic variation; differences among major groups constitute only 3 to 5%. Nevertheless, without using prior information about the origins of individuals, we identified six main genetic clusters, five of which correspond to major geographic regions, and subclusters that often correspond to individual populations. General agreement of genetic and predefined populations suggests that self-reported ancestry can facilitate assessments of epidemiological risks but does not obviate the need to use genetic information in genetic association studies.

1 Molecular and Computational Biology, 1042 West 36th Place DRB 289, University of Southern California, Los Angeles, CA 90089, USA.
2 Department of Human Genetics, University of Chicago, 920 East 58th Street, Chicago, IL 60637, USA.
3 Center for Medical Genetics, Marshfield Medical Research Foundation, Marshfield, WI 54449, USA.
4 Foundation Jean Dausset-Centre d'Etude du Polymorphisme Humain (CEPH), 27 rue Juliette Dodu, 75010 Paris, France.
5 Department of Genetics, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520, USA.
6 Vavilov Institute of General Genetics, Russian Academy of Sciences, 3 Gubkin Street, Moscow 117809, Russia.
7 Department of Biological Sciences, Stanford University, Stanford, CA 94305, USA.
*   To whom correspondence should be addressed. E-mail: noahr{at}usc.edu

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