Correlation between genetic and geographic structure in Europe
Correlation between genetic and geographic structure in Europe
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DOI：
10.1016/j.cub.2008.07.049
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发表时间：
2008-08-26
期刊：
影响因子：
9.2
通讯作者：
Kayser, Manfred
中科院分区：
文献类型：
--
作者：
Lao, Oscar;Lu, Timothy T.;Kayser, Manfred
了解欧洲人口的遗传结构是重要的，不仅从历史的角度来看，而且对遗传流行病学研究的适当设计和解释。先前在欧洲使用常染色体标记进行的群体遗传分析要么具有广泛的地理范围，但基因组覆盖范围很窄[1,2]，要么相反[3-6]。因此，我们研究了广泛分布在欧洲的23个不同亚群的2514个个体的Affymetrix基因芯片500K基因型数据。虽然我们发现亚群之间的遗传分化水平较低，但现有差异的特征是地理距离和遗传距离之间具有很强的全大陆相关性。此外，与北欧相比，南欧的平均杂合性更大，平均连锁不平衡更小。这两个参数清楚地显示了欧洲遗传多样性的空间连续性的临床分布。因此，我们的综合遗传数据与基于欧洲人口历史的预期相一致，包括南向北扩张和/或南欧比北欧更大的有效人口规模的假设。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，从而证实了他们假设的区域祖先。
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.