1. Department of Ecology and Evolutionary Biology, Interdepartmental Program in Bioinformatics, University of California–Los Angeles, Los Angeles, California 90095, USA
2. Department of Human Genetics,
3. Department of Statistics, University of Chicago, Chicago, Illinois 60637, USA
4. Department of Medical Genetics,
5. University Institute for Social and Preventative Medecine, Centre Hospitalier Universitaire Vaudois (CHUV), University of Lausanne, Rue de Bugnon 27 - DGM 328, CH-1005 Lausanne, Switzerland
6. Swiss Institute of Bioinformatics, Central Administration, Quartier Sorge - Batiment Genopode, 1015 Lausanne, Switzerland
7. Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, New York 14853, USA
8. GlaxoSmithKline, Research Triangle Park, North Carolina 27709, USA

Correspondence to: John Novembre^1,2 Correspondence and requests for materials should be addressed to J.N. (Email: jnovembre@ucla.edu)

Abstract

Understanding the genetic structure of human populations is of fundamental interest to medical, forensic and anthropological sciences. Advances in high-throughput genotyping technology have markedly improved our understanding of global patterns of human genetic variation and suggest the potential to use large samples to uncover variation among closely spaced populations^{1, 2, 3, 4, 5}. Here we characterize genetic variation in a sample of 3,000 European individuals genotyped at over half a million variable DNA sites in the human genome. Despite low average levels of genetic differentiation among Europeans, we find a close correspondence between genetic and geographic distances; indeed, a geographical map of Europe arises naturally as an efficient two-dimensional summary of genetic variation in Europeans. The results emphasize that when mapping the genetic basis of a disease phenotype, spurious associations can arise if genetic structure is not properly accounted for. In addition, the results are relevant to the prospects of genetic ancestry testing⁶; an individual's DNA can be used to infer their geographic origin with surprising accuracy—often to within a few hundred kilometres.

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