HWE in Gene Disease Association Studies

In testing gene-disease associations using a case-control design, the controls are expected to comply with HWE. Controls may deviate from HWE for reasons that depend on whether they are 'disease-free' controls (chosen for being disease-free), or 'random' controls (selected from a max general population). If there is indeed a gene-disease association, disease-free controls may not be in HWE depending on the underlying genetic model of the disease. 'Random' controls are conversely expected to be in HWE if the population is in equilibrium. Some explanations refer to the characteristics of the disease, such as attrition, or to the population such as selection.

Studies on the effect of deviation from HWE to the conclusions of an association study have shown that spurious results may occur regarding the strength or even the presence of a postulated gene-disease association when the allele-based analysis is performed. Some methods for correcting deviations from HWE have also been proposed.

See also: Behavioral and Ecological Genetics; History of Ecology; Isolation.

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