Blased Tests of Association: Comparisons of Allele Frequencies when Departing from Hardy-Weinberg Proportions

摘要: Association studies of genetic markers or candidate genes with disease are often conducted using the traditional case-control design. Cases and controls sampled from genetically unrelated subjects, allele frequencies compared between cases Pearson's chi-square statistic. An assumption this analysis method is that two alleles within each subject statistically independent, at least when no association exists. This equivalent to assuming genotypes in general population comply Hardy-Weinberg Equilibrium proportions, which may not always be case. However, deviations can inflate chance a false-positive association. These results demonstrate comparing controls, substantially increased if homozygotes for putative high-risk more common than predicted by Equilibrium. In contrast, statistic conservative frequency less predicted. A valid corrects presented, so greater acceptable level.