Are Interactions between cis-Regulatory Variants Evidence for Biological Epistasis or Statistical Artifacts?

ABSTRACT: The importance of epistasis-or statistical interactions between genetic variants-to the development of complex disease in humans has been controversial. Genome-wide association studies of statistical interactions influencing human traits have recently become computationally feasible and have identified many putative interactions. However, statistical models used to detect interactions can be confounded, which makes it difficult to be certain that observed statistical interactions are evidence for true molecular epistasis. In this study, we investigate whether there is evidence for epistatic interactions between genetic variants within the cis-regulatory region that influence gene expression after accounting for technical, statistical, and biological confounding factors. We identified 1,119

SUBMITTER: Fish AE 

PROVIDER: S-EPMC5065654 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature