DAE

Abstract

We propose a method for the study of gene-gene, gene-environment and gene-treatment interactions which are interpretable in terms of mechanism. Tests for detecting mechanistic - as opposed to 'statistical' - interactions have been previously proposed, but they are meaningful only if a number of assumptions and conditions are verified. Con- sequently, they are not always applicable and, in those situations where they are, their validity depends on an appropriate choice of stratifying variables. This paper proposes a novel formulation of the problem. We illustrate the method with the aid of studies where evidence from case-control studies of genetic association is combined with information from biological experiments, to elucidate the role of specific molecular mechanism (au- tophagy, ion channels) in susceptibility to specific diseases (Crohn's Disease, Multiple Sclerosis).