Genes mirror geography within Europe

被引:934
作者
Novembre, John [1 ,2 ]
Johnson, Toby [4 ,5 ,6 ]
Bryc, Katarzyna [7 ]
Kutalik, Zoltan [4 ,6 ]
Boyko, Adam R. [7 ]
Auton, Adam [7 ]
Indap, Amit [7 ]
King, Karen S. [8 ]
Bergmann, Sven [4 ,6 ]
Nelson, Matthew R. [8 ]
Stephens, Matthew [2 ,3 ]
Bustamante, Carlos D. [7 ]
机构
[1] Univ Calif Los Angeles, Dept Ecol & Evolutionary Biol, Interdept Program Bioinformat, Los Angeles, CA 90095 USA
[2] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA
[3] Univ Chicago, Dept Stat, Chicago, IL 60637 USA
[4] Univ Lausanne, CHUV, Dept Med Genet, CH-1005 Lausanne, Switzerland
[5] Univ Lausanne, CHUV, Univ Inst Social & Preventat Med, CH-1005 Lausanne, Switzerland
[6] Swiss Inst Bioinformat, Cent Adm, CH-1015 Lausanne, Switzerland
[7] Cornell Univ, Dept Biol Stat & Computat Biol, Ithaca, NY 14853 USA
[8] GlaxoSmithKline, Res Triangle Pk, NC 27709 USA
基金
美国国家科学基金会; 美国国家卫生研究院; 瑞士国家科学基金会;
关键词
D O I
10.1038/nature07331
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
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.
引用
收藏
页码:98 / U5
页数:6
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