Nassir Rami, Kosoy Roman, Tian Chao, White Phoebe A, Butler Lesley M, Silva Gabriel, Kittles Rick, Alarcon-Riquelme Marta E, Gregersen Peter K, Belmont John W, De La Vega Francisco M, Seldin Michael F
Rowe Program in Human Genetics, Departments of Biochemistry and Medicine, University of California Davis, Davis, CA 95616, USA.
BMC Genet. 2009 Jul 24;10:39. doi: 10.1186/1471-2156-10-39.
Case-control genetic studies of complex human diseases can be confounded by population stratification. This issue can be addressed using panels of ancestry informative markers (AIMs) that can provide substantial population substructure information. Previously, we described a panel of 128 SNP AIMs that were designed as a tool for ascertaining the origins of subjects from Europe, Sub-Saharan Africa, Americas, and East Asia.
In this study, genotypes from Human Genome Diversity Panel populations were used to further evaluate a 93 SNP AIM panel, a subset of the 128 AIMS set, for distinguishing continental origins. Using both model-based and relatively model-independent methods, we here confirm the ability of this AIM set to distinguish diverse population groups that were not previously evaluated. This study included multiple population groups from Oceana, South Asia, East Asia, Sub-Saharan Africa, North and South America, and Europe. In addition, the 93 AIM set provides population substructure information that can, for example, distinguish Arab and Ashkenazi from Northern European population groups and Pygmy from other Sub-Saharan African population groups.
These data provide additional support for using the 93 AIM set to efficiently identify continental subject groups for genetic studies, to identify study population outliers, and to control for admixture in association studies.
复杂人类疾病的病例对照基因研究可能会受到群体分层的干扰。这个问题可以通过使用能提供大量群体亚结构信息的祖先信息标记（AIM）面板来解决。此前，我们描述了一个由128个单核苷酸多态性AIM组成的面板，该面板被设计为一种工具，用于确定来自欧洲、撒哈拉以南非洲、美洲和东亚的受试者的起源。
在本研究中，人类基因组多样性小组群体的基因型被用于进一步评估一个由93个SNP AIM组成的面板（128个AIM集合的一个子集）区分大陆起源的能力。使用基于模型和相对独立于模型的方法，我们在此证实了该AIM集合区分此前未评估的不同群体的能力。本研究包括来自大洋洲、南亚、东亚、撒哈拉以南非洲、北美洲和南美洲以及欧洲的多个群体。此外，93个AIM集合提供了群体亚结构信息，例如，可以区分阿拉伯人和德系犹太人（与北欧群体）以及俾格米人（与其他撒哈拉以南非洲群体）。
这些数据为使用93个AIM集合有效识别基因研究中的大陆受试者群体、识别研究群体异常值以及在关联研究中控制混杂提供了额外支持。
