欧洲基因结构与地理结构之间的相关性。
Correlation between genetic and geographic structure in Europe.
作者信息
Lao Oscar, Lu Timothy T, Nothnagel Michael, Junge Olaf, Freitag-Wolf Sandra, Caliebe Amke, Balascakova Miroslava, Bertranpetit Jaume, Bindoff Laurence A, Comas David, Holmlund Gunilla, Kouvatsi Anastasia, Macek Milan, Mollet Isabelle, Parson Walther, Palo Jukka, Ploski Rafal, Sajantila Antti, Tagliabracci Adriano, Gether Ulrik, Werge Thomas, Rivadeneira Fernando, Hofman Albert, Uitterlinden André G, Gieger Christian, Wichmann Heinz-Erich, Rüther Andreas, Schreiber Stefan, Becker Christian, Nürnberg Peter, Nelson Matthew R, Krawczak Michael, Kayser Manfred
机构信息
Department of Forensic Molecular Biology, Erasmus University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands.
出版信息
Curr Biol. 2008 Aug 26;18(16):1241-8. doi: 10.1016/j.cub.2008.07.049. Epub 2008 Aug 7.
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.
了解欧洲人群的遗传结构不仅从历史角度来看非常重要,而且对于遗传流行病学研究的合理设计和解读也很重要。此前利用常染色体标记对欧洲人群进行的群体遗传学分析,要么地理覆盖范围广但基因组覆盖范围窄[1,2],要么反之[3 - 6]。因此,我们研究了来自广泛分布于欧洲的23个不同亚群体的2514名个体的Affymetrix GeneChip 500K基因分型数据。虽然我们发现亚群体之间的遗传分化程度较低,但现有的差异表现为地理距离与遗传距离之间在整个大陆范围内存在很强的相关性。此外,与北欧相比,南欧的平均杂合度更高,平均连锁不平衡更低。这两个参数都清楚地显示出一种渐变分布,为欧洲遗传多样性的空间连续性提供了证据。因此,我们全面的遗传数据与基于欧洲人群历史的预期相符,包括南北扩张假说和/或南欧有效群体规模大于北欧的假说。通过将广泛使用的来自犹他州的CEPH(CEU)样本纳入我们的分析,我们可以表明这些个体相当好地代表了北欧和西欧人群,从而证实了他们假定的区域祖先。