Correlation between genetic and geographic structure in Europe

被引:351
作者
Lao, Oscar [1 ]
Lu, Timothy T. [2 ]
Nothnagel, Michael [2 ]
Junge, Olaf [2 ]
Freitag-Wolf, Sandra [2 ]
Caliebe, Amke [2 ]
Balascakova, Miroslava [3 ,4 ]
Bertranpetit, Jaume [5 ]
Bindoff, Laurence A. [6 ,7 ]
Comas, David [5 ]
Hoimlund, Gunilla [8 ]
Kouvatsi, Anastasia [9 ]
Macek, Milan [3 ,4 ]
Mollet, Isabelle [10 ]
Parson, Walther [11 ]
Palo, Jukka [12 ]
Ploski, Rafal [13 ]
Sajantila, Antti [12 ]
Tagliabracci, Adriano [14 ]
Gether, Ulrik [15 ,16 ]
Werge, Thomas [17 ,18 ]
Rivadeneira, Fernando [19 ,20 ]
Hofman, Albert [20 ]
Uitterlinden, Andre G. [19 ,20 ]
Gieger, Christian [21 ,26 ]
Wichmann, Heinz-Erich [21 ,26 ]
Ruether, Andreas [22 ]
Schreiber, Stefan [22 ]
Becker, Christian [23 ,24 ]
Nuernberg, Peter [23 ,24 ]
Nelson, Matthew R. [25 ]
Krawczak, Michael [2 ]
Kayser, Manfred [1 ]
机构
[1] Erasmus Univ, Med Ctr Rotterdam, Dept Forens Mol Biol, NL-3000 CA Rotterdam, Netherlands
[2] Univ Kiel, Inst Med Informat & Stat, D-24105 Kiel, Germany
[3] Charles Univ Prague, Sch Med 2, CZ-15006 Prague 5, Czech Republic
[4] Univ Hosp Motol, Inst Biol & Med Genet, CZ-15006 Prague 5, Czech Republic
[5] Pompeu Fabra Univ, Unitat Biol Evolut, Barcelona 08003, Catalonia, Spain
[6] Haukeland Hosp, Dept Neurol, N-5021 Bergen, Norway
[7] Univ Bergen, Inst Clin Med, N-5021 Bergen, Norway
[8] Natl Board Forens Med, Dept Forest Genet & Forens Toxicol, SE-58133 Linkoping, Sweden
[9] Aristotle Univ Thessaloniki, Dept Genet Dev & Mol Biol, GR-54006 Thessaloniki, Greece
[10] EFS RA Site Lyon, Lab Empreintes Genet, F-69007 Lyon, France
[11] Med Univ Innsbruck, Inst Legal Med, A-6020 Innsbruck, Austria
[12] Univ Helsinki, Dept Forens Med, FIN-00014 Helsinki, Finland
[13] Med Univ Warsaw, Dept Med Genet, PL-02007 Warsaw, Poland
[14] Univ Ancona, Ist Med Legale, I-60020 Ancona, Italy
[15] Univ Copenhagen, Mol Neuropharmacol Grp, DK-2200 Copenhagen, Denmark
[16] Univ Copenhagen, Ctr Pharmacogenom, Dept Neurosci & Pharmacol, DK-2200 Copenhagen, Denmark
[17] Copenhagen Univ Hosp, Mental Hlth Ctr Sct Hans, Res Inst Biol Psychiat, DK-4000 Roskilde, Denmark
[18] Copenhagen Univ Hosp, Mental Hlth Ctr Sct Hans, Ctr Pharmacogenom, DK-4000 Roskilde, Denmark
[19] Erasmus Univ, Med Ctr Rotterdam, Dept Internal Med, Genet Lab, NL-3000 CA Rotterdam, Netherlands
[20] Erasmus Univ, Med Ctr Rotterdam, Dept Epidemiol, NL-3000 CA Rotterdam, Netherlands
[21] Helmholtz Zentrum Munchen German Res Ctr Environm, Inst Epidemiol, D-85764 Neuherberg, Germany
[22] Univ Kiel, Inst Med Mol Biol, D-24105 Kiel, Germany
[23] Univ Cologne, Cologne Ctr Genom, D-50674 Cologne, Germany
[24] Univ Cologne, Inst Genet, D-50674 Cologne, Germany
[25] GlaxoSmithKline, Genet, Res Triangle Pk, NC 27709 USA
[26] Univ Munich, Inst Med Informat Biometry & Epidemiol, D-81377 Munich, Germany
基金
芬兰科学院;
关键词
D O I
10.1016/j.cub.2008.07.049
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Understanding the genetic structure of the European population is important, not only from a historical perspective, but also for the appropriate design and interpretation of genetic epidemiological studies. Previous population genetic analyses with autosomal markers in Europe either had a wide geographic but narrow genomic coverage [1, 2], or vice versa [3-6]. We therefore investigated Affymetrix GeneChip 500K genotype data from 2,514 individuals belonging to 23 different subpopulations, widely spread over Europe. Although we found only a low level of genetic differentiation between subpopulations, the existing differences were characterized by a strong continent-wide correlation between geographic and genetic distance. Furthermore, mean heterozygosity was larger, and mean linkage disequilibrium smaller, in southern as compared to northern Europe. Both parameters clearly showed a clinal distribution that provided evidence for a spatial continuity of genetic diversity in Europe. Our comprehensive genetic data are thus compatible with expectations based upon European population history, including the hypotheses of a south-north expansion and/or a larger effective population size in southern than in northern Europe. By including the widely used CEPH from Utah (CEU) samples into our analysis, we could show that these individuals represent northern and western Europeans reasonably well, thereby confirming their assumed regional ancestry.
引用
收藏
页码:1241 / 1248
页数:8
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