Bookman Ebony B, McAllister Kimberly, Gillanders Elizabeth, Wanke Kay, Balshaw David, Rutter Joni, Reedy Jill, Shaughnessy Daniel, Agurs-Collins Tanya, Paltoo Dina, Atienza Audie, Bierut Laura, Kraft Peter, Fallin M Daniele, Perera Frederica, Turkheimer Eric, Boardman Jason, Marazita Mary L, Rappaport Stephen M, Boerwinkle Eric, Suomi Stephen J, Caporaso Neil E, Hertz-Picciotto Irva, Jacobson Kristen C, Lowe William L, Goldman Lynn R, Duggal Priya, Gunnar Megan R, Manolio Teri A, Green Eric D, Olster Deborah H, Birnbaum Linda S
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Genet Epidemiol. 2011 May;35(4):217-25. doi: 10.1002/gepi.20571.
Although it is recognized that many common complex diseases are a result of multiple genetic and environmental risk factors, studies of gene-environment interaction remain a challenge and have had limited success to date. Given the current state-of-the-science, NIH sought input on ways to accelerate investigations of gene-environment interplay in health and disease by inviting experts from a variety of disciplines to give advice about the future direction of gene-environment interaction studies. Participants of the NIH Gene-Environment Interplay Workshop agreed that there is a need for continued emphasis on studies of the interplay between genetic and environmental factors in disease and that studies need to be designed around a multifaceted approach to reflect differences in diseases, exposure attributes, and pertinent stages of human development. The participants indicated that both targeted and agnostic approaches have strengths and weaknesses for evaluating main effects of genetic and environmental factors and their interactions. The unique perspectives represented at the workshop allowed the exploration of diverse study designs and analytical strategies, and conveyed the need for an interdisciplinary approach including data sharing, and data harmonization to fully explore gene-environment interactions. Further, participants also emphasized the continued need for high-quality measures of environmental exposures and new genomic technologies in ongoing and new studies.
尽管人们认识到许多常见的复杂疾病是多种遗传和环境风险因素共同作用的结果,但基因-环境相互作用的研究仍然是一项挑战,并且迄今为止取得的成功有限。鉴于当前的科学现状,美国国立卫生研究院(NIH)通过邀请来自不同学科的专家就基因-环境相互作用研究的未来方向提供建议,来寻求加速健康与疾病中基因-环境相互作用研究的方法。NIH基因-环境相互作用研讨会的参与者一致认为,需要继续重视疾病中遗传和环境因素之间相互作用的研究,并且研究需要围绕多方面的方法来设计,以反映疾病、暴露特征以及人类发育相关阶段的差异。参与者指出,靶向性方法和非靶向性方法在评估遗传和环境因素的主要效应及其相互作用方面都有优缺点。研讨会上所代表的独特观点使得人们能够探索多样的研究设计和分析策略,并传达了采用跨学科方法(包括数据共享和数据协调)以充分探索基因-环境相互作用的必要性。此外,参与者还强调在正在进行的和新的研究中,持续需要高质量的环境暴露测量方法和新的基因组技术。