Auton Adam, Bryc Katarzyna, Boyko Adam R, Lohmueller Kirk E, Novembre John, Reynolds Andy, Indap Amit, Wright Mark H, Degenhardt Jeremiah D, Gutenkunst Ryan N, King Karen S, Nelson Matthew R, Bustamante Carlos D
Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY 14853-2601, USA.
Genome Res. 2009 May;19(5):795-803. doi: 10.1101/gr.088898.108. Epub 2009 Feb 13.
Characterizing patterns of genetic variation within and among human populations is important for understanding human evolutionary history and for careful design of medical genetic studies. Here, we analyze patterns of variation across 443,434 single nucleotide polymorphisms (SNPs) genotyped in 3845 individuals from four continental regions. This unique resource allows us to illuminate patterns of diversity in previously under-studied populations at the genome-wide scale including Latin America, South Asia, and Southern Europe. Key insights afforded by our analysis include quantifying the degree of admixture in a large collection of individuals from Guadalajara, Mexico; identifying language and geography as key determinants of population structure within India; and elucidating a north-south gradient in haplotype diversity within Europe. We also present a novel method for identifying long-range tracts of homozygosity indicative of recent common ancestry. Application of our approach suggests great variation within and among populations in the extent of homozygosity, suggesting both demographic history (such as population bottlenecks) and recent ancestry events (such as consanguinity) play an important role in patterning variation in large modern human populations.
描绘人类群体内部和群体之间的遗传变异模式,对于理解人类进化史以及精心设计医学遗传学研究都非常重要。在此,我们分析了来自四个大陆地区的3845名个体中443,434个单核苷酸多态性(SNP)的变异模式。这一独特资源使我们能够在全基因组范围内阐明此前研究较少的群体的多样性模式,这些群体包括拉丁美洲、南亚和南欧。我们的分析提供的关键见解包括:量化来自墨西哥瓜达拉哈拉的大量个体中的混合程度;确定语言和地理是印度境内群体结构的关键决定因素;阐明欧洲单倍型多样性的南北梯度。我们还提出了一种识别指示近期共同祖先的纯合长片段的新方法。我们方法的应用表明,群体内部和群体之间在纯合程度上存在很大差异,这表明人口历史(如群体瓶颈)和近期祖先事件(如近亲结婚)在塑造现代大型人类群体的变异模式中都起着重要作用。