DeWan Andrew T
Department of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, CT, USA.
Methods Mol Biol. 2018;1793:89-110. doi: 10.1007/978-1-4939-7868-7_7.
Identifying gene-gene and gene-environment interactions may help us to better describe the genetic architecture for complex traits. While advances have been made in identifying genetic variants associated with complex traits through more dense panels of genetic variants and larger sample sizes, genome-wide interaction analyses are still limited in power to detect interactions with small effect sizes, rare frequencies, and higher order interactions. This chapter outlines methods for detecting both gene-gene and gene-environment interactions both through explicit tests for interactions (i.e., ones in which the interaction is tested directly) and non-explicit tests (i.e., ones in which an interaction is allowed for in the test, but does not test for the interaction directly) as well as approaches for increasing power by reducing the search space. Issues relating to multiple test correction, replication, and the reporting of interaction results in publications.
识别基因-基因和基因-环境相互作用可能有助于我们更好地描述复杂性状的遗传结构。虽然通过更密集的遗传变异面板和更大的样本量在识别与复杂性状相关的遗传变异方面取得了进展，但全基因组相互作用分析在检测具有小效应大小、罕见频率和高阶相互作用的相互作用方面的能力仍然有限。本章概述了通过对相互作用进行显式检验（即直接检验相互作用的方法）和非显式检验（即在检验中考虑相互作用但不直接检验相互作用的方法）来检测基因-基因和基因-环境相互作用的方法，以及通过减少搜索空间来提高检验效能的方法。还讨论了与多重检验校正、重复验证以及在出版物中报告相互作用结果相关的问题。
