Gene-environment interactions in cancer epidemiology: a National Cancer Institute Think Tank report.
Gene-environment interactions in cancer epidemiology: a National Cancer Institute Think Tank report.
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DOI：
10.1002/gepi.21756
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发表时间：
2013-11
影响因子：
2.1
通讯作者：
Gillanders, Elizabeth M.
中科院分区：
文献类型：
--
作者：
Hutter, Carolyn M.;Mechanic, Leah E.;Chatterjee, Nilanjan;Kraft, Peter;Gillanders, Elizabeth M.
癌症风险由遗传和环境因素的复杂相互作用决定。全基因组关联研究（GWAS）已经确定了数百种与癌症相关的常见（次要等位基因频率[MAF]>0.05）和不太常见（0.01<MAF<0.05）遗传变异。大多数这些变异的边际效应都很小（优势比：1.1-1.4）。关于如何最好地将基因和环境的联合效应，包括基因-环境相互作用，纳入癌症的流行病学研究，仍然存在未回答的问题。为了帮助解决这些问题，并更好地为研究重点和资源分配提供信息，美国国家癌症研究所于2012年1月10日至11日赞助了一个“基因-环境智囊团”。智囊团的目标是促进讨论：1）科学现状; 2）癌症流行病学中基因-环境相互作用研究的目标; 3）开发新的研究设计和分析工具的机会。本报告总结了智囊团的讨论，重点是当代方法来分析基因-环境相互作用。选择适当的方法需要首先确定相关的科学问题和基本原理，并在旨在表征推定或确定的遗传和环境因素的联合效应的分析与旨在发现新的风险因素或新的相互作用效应的分析之间进行重要的区分。其他讨论项目包括测量误差、统计功效、显著性和重复性。当我们从目前的少数成功案例转向更全面地了解遗传和环境因素的相互作用时，需要考虑其他设计、暴露评估和分析方法。
Cancer risk is determined by a complex interplay of genetic and environmental factors. Genome-wide association studies (GWAS) have identified hundreds of common (minor allele frequency [MAF]>0.05) and less common (0.01<MAF<0.05) genetic variants associated with cancer. The marginal effects of most of these variants have been small (odds ratios: 1.1–1.4). There remain unanswered questions on how best to incorporate the joint effects of genes and environment, including gene-environment interactions, into epidemiologic studies of cancer. To help address these questions, and to better inform research priorities and allocation of resources, the National Cancer Institute sponsored a “Gene-Environment Think Tank” on January 10th–011th, 2012. The objective of the Think Tank was to facilitate discussions on: 1) the state of the science; 2) the goals of gene-environment interaction studies in cancer epidemiology; and 3) opportunities for developing novel study designs and analysis tools. This report summarizes the Think Tank discussion, with a focus on contemporary approaches to the analysis of gene-environment interactions. Selecting the appropriate methods requires first identifying the relevant scientific question and rationale, with an important distinction made between analyses aiming to characterize the joint effects of putative or established genetic and environmental factors and analyses aiming to discover novel risk factors or novel interaction effects. Other discussion items include measurement error, statistical power, significance and replication. Additional designs, exposure assessments, and analytical approaches need to be considered as we move from the current small number of success stories to a fuller understanding of the interplay of genetic and environmental factors.
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DOI：
10.1038/nrg2579
发表时间：
2009-06
期刊：
Nature reviews. Genetics
影响因子：
--
作者：
Cordell HJ
通讯作者：
Cordell HJ
影响因子：
1.9
作者：
Bůžková P;Lumley T;Rice K
通讯作者：
Rice K
影响因子：
2.7
作者：
Dai, James Y.;Kooperberg, Charles;Prentice, Ross L.
通讯作者：
Prentice, Ross L.
影响因子：
5
作者：
Dai, James Y.;Logsdon, Benjamin A.;Kooperberg, Charles
通讯作者：
Kooperberg, Charles
影响因子：
5
作者：
Cornelis, Marilyn C.;Tchetgen, Eric J. Tchetgen;Kraft, Peter
通讯作者：
Kraft, Peter