Population Stratification in Genetic Association Studies.
Population Stratification in Genetic Association Studies.
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DOI：
10.1002/cphg.48
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发表时间：
2017-10-18
影响因子：
--
通讯作者：
Edwards TL
中科院分区：
文献类型：
--
作者：
Hellwege JN;Keaton JM;Giri A;Gao X;Velez Edwards DR;Edwards TL
种群分层(PS)是研究人类性状遗传决定因素的主要考虑因素。未能对其进行控制可能会导致混淆，导致研究因缺乏显著结果而失败，或在错误阳性信号后浪费资源。在这里，我们回顾了在人类群体中进行遗传关联研究时解决PS的历史和当前方法。我们描述了检测PS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时考虑PS的方法，以便关联度量不会被混淆。首次在少数群体中检测了许多特征，这些群体可能固有地具有PS特征。
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. Many traits are being examined for the first time in minority populations, populations that may inherently feature PS.