Detecting marker-disease association by testing for Hardy-Weinberg disequilibrium at a marker locus
Detecting marker-disease association by testing for Hardy-Weinberg disequilibrium at a marker locus
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DOI：
10.1086/302114
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发表时间：
1998-11-01
影响因子：
9.8
通讯作者：
Weir, BS
中科院分区：
文献类型：
--
作者：
Nielsen, DM;Ehm, MG;Weir, BS
我们回顾并扩展了最近的一项建议，即根据受影响个体之间哈迪-温伯格平衡的偏差，对复杂疾病的疾病易感性位点进行线尺度定位。这种偏差是由整个群体中疾病和标记位点之间的连锁不平衡驱动的，并且需要该疾病的异质遗传基础。因此，标记位点 Hardy-Weinberg 不平衡的发现意味着疾病异质性和标记-疾病连锁不平衡。尽管标记位点处 Hardy-Weinberg 不平衡缺乏偏离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，但这并不意味着连锁不平衡的通常测量值为零。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 Hardy-Wreinberg 不平衡中得出推论时需要小心。
We review and extend a recent suggestion that line-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 susceptibility-weighted 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-Wreinberg disequilibria.