VanderWeele Tyler J, Laird Nan M
Harvard School of Public Health - Departments of Epidemiology and Biostatistics, Boston, Massachusetts 02115, United States.
Ann Hum Genet. 2011 Jan;75(1):146-56. doi: 10.1111/j.1469-1809.2010.00600.x. Epub 2010 Aug 20.
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.
当一个基因座上的遗传因子效应被另一个基因座上的变异所掩盖时，就称存在组合上位性。尽管这种组合上位性并不等同于统计模型中存在相互作用，但有时可以使用非标准检验来检测组合上位性。在本文中，我们考虑在两个遗传因子联合效应模型下对组合上位性进行实证检验，这些模型对每个因子的主效应不设限制，但约束两个因子的交互效应，使其由模型中的单个参数来表示。我们描述了这些检验对队列研究、病例对照研究、病例单组研究和基于家系的研究设计的意义，并通过文献中已报道的基因-基因相互作用实例来说明这些方法。
