Edwards Todd L, Gao Xiaoyi
Center for Human Genetics Research, Division of Epidemiology, Department of Medicine, Vanderbilt University, Nashville, Tennessee, USA.
Curr Protoc Hum Genet. 2012 Apr;Chapter 1:Unit 1.22.1-14. doi: 10.1002/0471142905.hg0122s73.
Population stratification (PS) is a primary consideration in studies of the genetic determinants of human traits. Failure to control for it may lead to confounding, causing a study to fail for lack of significant results or resources to be wasted following false-positive signals. Here we review historical and current approaches for addressing PS when performing genetic association studies in human populations. We describe methods for detecting the presence of PS including global and local ancestry methods. We also describe approaches for accounting for PS when calculating association statistics, such that measures of association are not confounded. This is particularly important since many traits are being examined in minority populations, populations that may inherently feature PS.
群体分层（PS）是人类性状遗传决定因素研究中的首要考虑因素。未能对其进行控制可能会导致混杂，致使研究因缺乏显著结果而失败，或者在出现假阳性信号后造成资源浪费。在此，我们回顾了在人类群体中进行基因关联研究时处理群体分层的历史和当前方法。我们描述了检测群体分层存在的方法，包括全局和局部祖先方法。我们还描述了在计算关联统计量时考虑群体分层的方法，以使关联度量不被混淆。这一点尤为重要，因为许多性状正在少数群体中进行研究，而这些群体可能本身就存在群体分层特征。
