Using both cases and controls for testing hardy-weinberg proportions in a genetic association study.

ABSTRACT:

Objectives

Assessment of the Hardy-Weinberg proportion (HWP) in controls has been widely used as a quality control measure in case-control association studies. However, when the disease being studied is common, controls might not represent the general population, which could result in inaccurate HWP test results. Such results could lead investigators to discard important single-nucleotide polymorphisms (SNPs) that could potentially be causal. In this paper, we showed the inappropriateness of the HWP test in controls and proposed a mixture HWP (mHWP) exact test using a mixture sample that mimics the general population.

Methods

The mHWP exact test estimates HWP in a mixture sample that is a combination of both cases and controls proportional to the prevalence of disease. We im

SUBMITTER: Wang J 

PROVIDER: S-EPMC2918648 | biostudies-literature | 2010

REPOSITORIES: biostudies-literature