4.8 Article

Genetic structure of human populations

Journal

SCIENCE
Volume 298, Issue 5602, Pages 2381-2385

Publisher

AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1078311

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Funding

  1. NIGMS NIH HHS [GM28428] Funding Source: Medline

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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.

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