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Analyses of a set of 128 ancestry informative single-nucleotide polymorphisms in a global set of 119 population samples

机译：对全球119个人口样本中的128个祖先信息性单核苷酸多态性进行分析

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Background Using DNA to determine an individual's ancestry from among human populations is generally interesting and useful for many purposes, including admixture mapping, controlling for population structure in disease or trait association studies and forensic ancestry inference. However, to estimate ancestry, including possible admixture within an individual, as well as heterogeneity within a group of individuals, allele frequencies are necessary for what are believed to be the contributing populations. For this purpose, panels of ancestry informative markers (AIMs) have been developed. Results We are presenting our work on one such panel, composed of 128 ancestry informative single-nucleotide polymorphisms (AISNPs) already proposed in the literature. Compared to previous studies of these AISNPs, we have studied three times the number of individuals (4,871) in three times as many population samples (119). We have validated this panel for many ancestry assignment and admixture studies, especially those that were the rationale for the original selection of the 128 SNPs: African Americans and Mexican Americans. At the same time, the limitations of the panel for distinguishing ancestry and quantifying admixture among Eurasian populations are noted. Conclusion We demonstrate the simultaneous importance of the specific set of population samples and their relative sample sizes in the use of the structure program to determine which groups cluster together and consequently influence the ability of a marker panel to infer ancestry. We demonstrate the strengths and weaknesses of this particular panel of AISNPs in a global context.
机译：背景技术使用DNA从人群中确定个体的祖先通常是有趣且有用的，其用于许多目的，包括掺混物作图，控制疾病或性状关联研究中的种群结构以及法医祖先推断。但是，要估计祖先，包括个体内部可能的混合以及一组个体内部的异质性，等位基因频率对于被认为是贡献种群的人来说是必需的。为此，已经开发了祖先信息标记物（AIM）面板。结果我们将在一个这样的小组中展示我们的工作，该小组由文献中已经提出的128个祖先信息性单核苷酸多态性（AISNPs）组成。与以前对这些AISNP的研究相比，我们研究的个体数（4,871）是人口样本（119）的三倍之三。我们已经对该小组的许多祖先分配和混合研究进行了验证，尤其是那些最初选择128个SNP的理由的研究：非洲裔美国人和墨西哥裔美国人。同时，指出了欧亚人口之间区分血统和定量混合的小组的局限性。结论我们证明了特定人群样本集及其相对样本量在使用结构程序确定哪些群体聚集在一起并因此影响标记物群体推断祖先能力的同时重要性。我们在全球范围内展示了这一特殊的AISNP小组的优缺点。

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