Use of unlinked genetic markers to detect population stratification in association studies
Use of unlinked genetic markers to detect population stratification in association studies
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DOI：
10.1086/302449
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发表时间：
1999-07-01
影响因子：
9.8
通讯作者：
Rosenberg, NA
中科院分区：
文献类型：
--
作者：
Pritchard, JK;Rosenberg, NA
我们研究关联制图研究中的人口分层问题。在关联的病例对照研究中，群体细分或群体最近的混合可能导致表型与非连锁候选位点之间的虚假关联。使用从结构化群体中抽样的模型，我们表明，如果群体分层存在，它可以通过使用非连锁标记位点来检测。我们表明，使用不相关对照个体的病例-对照研究设计是一种有效的关联制图方法，前提是研究中包括与候选位点不相关的标记位点，以测试分层。我们建议关于使用非连锁标记位点的数量的指南。
We examine the issue of population stratification in association-mapping studies. In case-control studies of association, population subdivision or recent admixture of populations can lead to spurious associations between a phenotype and unlinked candidate loci. Using a model of sampling from a structured population, we show that if population stratification exists, it can be detected by use of unlinked marker loci. We show that the case-control-study design, using unrelated control individuals, is a valid approach for association mapping, provided that marker loci unlinked to the candidate locus are included in the study, to test for stratification. We suggest guidelines as to the number of unlinked marker loci to use.