期刊
ANNALS OF HUMAN GENETICS
卷 75, 期 -, 页码 146-156出版社
WILEY-BLACKWELL
DOI: 10.1111/j.1469-1809.2010.00600.x
关键词
Epistasis; gene-gene interaction; linear models; multiplicative models; study designs
资金
- NIH [R01 ES017876, R01 MH059532]
- NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES [R01ES017876] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF MENTAL HEALTH [R01MH059532] Funding Source: NIH RePORTER
P>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.
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