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

来源：

NATURE | 2008年 / 456卷 / 7218期

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

页码：98 / U5

页数：6

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