Pritchard J K, Rosenberg N A
Department of Statistics, University of Oxford, 1 South Parks Road, Oxford, OX1-3TG United Kingdom.
Am J Hum Genet. 1999 Jul;65(1):220-8. doi: 10.1086/302449.
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.
我们研究了关联图谱研究中的群体分层问题。在关联的病例对照研究中，群体细分或群体近期的混合可能导致表型与不连锁候选基因座之间出现虚假关联。通过使用从结构化群体中抽样的模型，我们表明，如果存在群体分层，可以通过使用不连锁的标记基因座来检测。我们表明，使用无关对照个体的病例对照研究设计是一种有效的关联图谱绘制方法，前提是研究中包含与候选基因座不连锁的标记基因座，以检测分层情况。我们就使用的不连锁标记基因座数量提出了指导原则。
