期刊论文详细信息
Genes mirror geography within Europe
Article
关键词: GENOME-WIDE ASSOCIATION;    STRATIFICATION;    ANCESTRY;    GENOTYPE;    LOCI;   
DOI  :  10.1038/nature07331
来源: SCIE
【 摘 要 】

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.

【 授权许可】

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