期刊
NATURE
卷 456, 期 7218, 页码 98-U5出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nature07331
关键词
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资金
- Giorgi-Cavaglieri Foundation
- Swiss National Science Foundation
- US National Science Foundation Postdoctoral Fellowship in Bioinformatics
- US National Institutes of Health
- GlaxoSmithKline
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(1-5). 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 testing(6); 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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