通过检测标记位点的哈迪-温伯格不平衡来检测标记与疾病的关联。
Detecting marker-disease association by testing for Hardy-Weinberg disequilibrium at a marker locus.
作者信息
Nielsen D M, Ehm M G, Weir B S
机构信息
Bioinformatics Department, Glaxo Wellcome, Inc., Research Triangle Park, NC 27709, USA.
出版信息
Am J Hum Genet. 1998 Nov;63(5):1531-40. doi: 10.1086/302114.
We review and extend a recent suggestion that fine-scale localization of a disease-susceptibility locus for a complex disease be done on the basis of deviations from Hardy-Weinberg equilibrium among affected individuals. This deviation is driven by linkage disequilibrium between disease and marker loci in the whole population and requires a heterogeneous genetic basis for the disease. A finding of marker-locus Hardy-Weinberg disequilibrium therefore implies disease heterogeneity and marker-disease linkage disequilibrium. Although a lack of departure of Hardy-Weinberg disequilibrium at marker loci implies that disease susceptibilityweighted linkage disequilibria are zero, given disease heterogeneity, it does not follow that the usual measures of linkage disequilibrium are zero. For disease-susceptibility loci with more than two alleles, therefore, care is needed in the drawing of inferences from marker Hardy-Weinberg disequilibria.
我们回顾并扩展了最近的一项建议，即对于复杂疾病的疾病易感性位点的精细定位应基于患病个体中偏离哈迪-温伯格平衡的情况来进行。这种偏离是由整个人口中疾病位点与标记位点之间的连锁不平衡驱动的，并且需要该疾病具有异质性遗传基础。因此，标记位点哈迪-温伯格不平衡的发现意味着疾病异质性和标记-疾病连锁不平衡。尽管标记位点缺乏哈迪-温伯格不平衡意味着疾病易感性加权连锁不平衡为零，但考虑到疾病异质性，并不意味着通常的连锁不平衡测量值为零。因此，对于具有两个以上等位基因的疾病易感性位点，在从标记哈迪-温伯格不平衡进行推断时需要谨慎。
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