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A Panel of Ancestry Informative Markers for the Complex Five-Way Admixed South African Coloured Population

机译:复杂的五向混合南非有色人口的先祖信息标记物小组

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摘要

Admixture is a well known confounder in genetic association studies. If genome-wide data is not available, as would be the case for candidate gene studies, ancestry informative markers (AIMs) are required in order to adjust for admixture. The predominant population group in the Western Cape, South Africa, is the admixed group known as the South African Coloured (SAC). A small set of AIMs that is optimized to distinguish between the five source populations of this population (African San, African non-San, European, South Asian, and East Asian) will enable researchers to cost-effectively reduce false-positive findings resulting from ignoring admixture in genetic association studies of the population. Using genome-wide data to find SNPs with large allele frequency differences between the source populations of the SAC, as quantified by Rosenberg et. al's -statistic, we developed a panel of AIMs by experimenting with various selection strategies. Subsets of different sizes were evaluated by measuring the correlation between ancestry proportions estimated by each AIM subset with ancestry proportions estimated using genome-wide data. We show that a panel of 96 AIMs can be used to assess ancestry proportions and to adjust for the confounding effect of the complex five-way admixture that occurred in the South African Coloured population.
机译:Admixture是遗传关联研究中众所周知的混杂因素。如果没有全基因组数据(如候选基因研究的情况),则需要祖先信息标记(AIM)以调整混合物。南非西开普省的主要人口群体是被称为南非彩色(SAC)的混合群体。一小组经过优化的AIM可以区分该人群的五个来源人群(非洲San,非洲非San,欧洲,南亚和东亚),这将使研究人员能够经济高效地减少由以下因素引起的假阳性结果:忽略了人口遗传关联研究中的混合。用Rosenberg等人定量的方法,利用全基因组数据寻找SAC来源群体之间等位基因频率差异较大的SNP。 al的-statistic,我们通过试验各种选择策略建立了一个AIM小组。通过测量每个AIM子集估计的祖先比例与使用全基因组数据估计的祖先比例之间的相关性,可以评估不同大小的子集。我们显示,可以使用96个AIM的面板来评估祖先的比例,并调整在南非有色人种中发生的复杂五向混合的混杂效应。

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