Genetic structure of human populations.
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.
Rosenberg
Noah A
NA
Molecular and Computational Biology, 1042 West 36th Place DRB 289, University of Southern California, Los Angeles, CA 90089, USA. noahr@usc.edu
Pritchard
Jonathan K
JK
Weber
James L
JL
Cann
Howard M
HM
Kidd
Kenneth K
KK
Zhivotovsky
Lev A
LA
Feldman
Marcus W
MW
D017954:Africa South of the Sahara; D000465:Algorithms; D000483:Alleles; D000569:Americas; D000704:Analysis of Variance; D001208:Asia; D016000:Cluster Analysis; D005060:Europe; D005787:Gene Frequency; D040961:Genetic Drift; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005826:Genetics, Medical; D005828:Genetics, Population; D005838:Genotype; D005843:Geography; D006579:Heterozygote; D006801:Humans; D007802:Language; D018895:Microsatellite Repeats; D008877:Middle East; D010139:Pacific Islands; D011336:Probability; D012307:Risk Factors