Genetic structure of a unique admixed population: implications for medical research
Genetic structure of a unique admixed population: implications for medical research
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DOI：
10.1093/hmg/ddp505
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发表时间：
2010-02-01
影响因子：
3.5
通讯作者：
Hayes, Vanessa M.
中科院分区：
文献类型：
--
作者：
Patterson, Nick;Petersen, Desiree C.;Hayes, Vanessa M.
了解人类遗传结构对了解人类疾病的演变和影响具有根本意义。在这项研究中，我们描述了一个独特的，最近混合人口产生类似于350年前的欧洲人在南非定居的直接结果复杂的遗传结构。使用超过90万个全基因组单核苷酸多态性在20个无关的祖先信息标记选择有色人种的个人进行分析，并与历史预测的创始人人口进行比较。我们发现，有大量的遗传贡献，至少有四个不同的人口群体：欧洲人，南亚人，马来西亚人和一个人口的遗传接近的isiXhosa撒哈拉以南班图。这与历史记录完全雅阁。我们简要地探讨了确定这一人口的遗传多样性的影响，不仅为进一步了解人类进化出非洲，而且为全基因组关联研究使用混合映射。总之，我们定义了一个独特的混合人口的遗传结构，具有巨大的潜力，以推进基于遗传的医学研究。
Understanding human genetic structure has fundamental implications for understanding the evolution and impact of human diseases. In this study, we describe the complex genetic substructure of a unique and recently admixed population arising similar to 350 years ago as a direct result of European settlement in South Africa. Analysis was performed using over 900 000 genome-wide single nucleotide polymorphisms in 20 unrelated ancestry-informative marker selected Coloured individuals and made comparisons with historically predicted founder populations. We show that there is substantial genetic contribution from at least four distinct population groups: Europeans, South Asians, Indonesians and a population genetically close to the isiXhosa sub-Saharan Bantu. This is in good accord with the historical record. We briefly examine the implications of determining the genetic diversity of this population, not only for furthering understanding of human evolution out of Africa, but also for genome-wide association studies using admixture mapping. In conclusion, we define the genetic structure of a uniquely admixed population that holds great potential to advance genetic-based medical research.