Chapman Juliet, Clayton David
London School of Hygiene and Tropical Medicine, London, UK.
Genet Epidemiol. 2007 Apr;31(3):261-71. doi: 10.1002/gepi.20207.
Usual tests of association using tag single nucleotide polymorphisms (SNPs) assume that the alleles of the causal locus act additively and that these alleles are then predicted indirectly via a set of tag SNPs. In the presence of strong dominance effects this model is not correct and an extra term needs to be included, which uses the tag SNPs to predict the heterozygosity of the causal locus. Assuming this scenario of a strong dominance effect, we present an appropriate test statistic and investigate how much power, if any, we gain by adding this single degree of freedom for dominance.
使用标签单核苷酸多态性(SNP)进行关联的常规测试假定因果位点的等位基因具有加性作用,然后通过一组标签SNP间接预测这些等位基因。在存在强显性效应的情况下,该模型并不正确,需要纳入一个额外的项,该项利用标签SNP来预测因果位点的杂合性。假设存在这种强显性效应的情况,我们给出一个合适的检验统计量,并研究通过增加这个用于显性的单自由度,我们能获得多少(如果有的话)检验效能。