Bauchet Marc, McEvoy Brian, Pearson Laurel N, Quillen Ellen E, Sarkisian Tamara, Hovhannesyan Kristine, Deka Ranjan, Bradley Daniel G, Shriver Mark D
Department of Anthropology, Pennsylvania State University, University Park, PA 16801, USA.
Am J Hum Genet. 2007 May;80(5):948-56. doi: 10.1086/513477. Epub 2007 Mar 22.
A proper understanding of population genetic stratification--differences in individual ancestry within a population--is crucial in attempts to find genes for complex traits through association mapping. We report on genomewide typing of approximately 10,000 single-nucleotide polymorphisms in 297 individuals, to explore population structure in Europeans of known and unknown ancestry. The results reveal the presence of several significant axes of stratification, most prominently in a northern-southeastern trend, but also along an east-west axis. We also demonstrate the selection and application of EuroAIMs (European ancestry informative markers) for ancestry estimation and correction. The Coriell Caucasian and CEPH (Centre d'Etude du Polymorphisme Humain) Utah sample panels, often used as proxies for European populations, are found to reflect different subsets of the continent's ancestry.
正确理解群体遗传分层——即群体内个体祖先的差异——对于通过关联定位寻找复杂性状基因的尝试至关重要。我们报告了对297名个体中约10000个单核苷酸多态性进行全基因组分型的结果,以探究具有已知和未知祖先的欧洲人的群体结构。结果揭示了几个显著的分层轴,最明显的是呈北-东南走向,但也存在一条东西走向的轴。我们还展示了欧洲祖先信息标记(EuroAIMs)在祖先估计和校正中的选择与应用。常被用作欧洲人群代表的科里尔白种人和CEPH(人类多态性研究中心)犹他样本组,被发现反映了该大陆祖先的不同子集。