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Tests for Compositional Epistasis under Single Interaction‐Parameter Models
Author(s) -
VanderWeele Tyler J.,
Laird Nan M.
Publication year - 2011
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.2010.00600.x
Subject(s) - epistasis , locus (genetics) , genetic model , econometrics , genetics , statistics , biology , computer science , mathematics , evolutionary biology , gene
Summary Compositional epistasis is said to be present when the effect of a genetic factor at one locus is masked by a variant at another locus. Although such compositional epistasis is not equivalent to the presence of an interaction in a statistical model, non‐standard tests can sometimes be used to detect compositional epistasis. In this paper we consider empirical tests for compositional epistasis under models for the joint effect of two genetic factors which place no restrictions on the main effects of each factor but constrain the interactive effects of the two factors so as to be captured by a single parameter in the model. We describe the implications of these tests for cohort, case‐control, case‐only and family‐based study designs and we illustrate the methods using an example of gene‐gene interaction already reported in the literature.