Genetic structure of human populations

Science. 2002 Dec 20;298(5602):2381-5. doi: 10.1126/science.1078311.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Africa South of the Sahara
  • Algorithms
  • Alleles
  • Americas
  • Analysis of Variance
  • Asia
  • Cluster Analysis
  • Europe
  • Gene Frequency
  • Genetic Drift
  • Genetic Predisposition to Disease
  • Genetic Variation*
  • Genetics, Medical*
  • Genetics, Population*
  • Genotype
  • Geography
  • Heterozygote
  • Humans
  • Language
  • Microsatellite Repeats
  • Middle East
  • Pacific Islands
  • Probability
  • Risk Factors