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生物样本库的出现:基于大规模人群的基因-环境相互作用研究的实际设计考量

The emergence of biobanks: practical design considerations for large population-based studies of gene-environment interactions.

作者信息

Davis Robert L, Khoury Muin J

机构信息

Office of Genomics and Disease Prevention, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA.

出版信息

Community Genet. 2007;10(3):181-5. doi: 10.1159/000101760.

Abstract

The completion of the human genome project has spurred new thinking about launching large-scale cohort studies; as proposed, these studies will differ from past large-scale cohort studies and will focus primarily on how genetic variation interacts with environmental exposures to affect the risk for common human diseases. There is no single 'best design' for large-scale studies of gene-environment interactions. Some studies are best performed in cohort studies where unbiased information can be collected on individuals years before disease onset. Other studies may be most efficiently done with a case-control design using currently available automated data. Population-based biobanks with nested case-control or case-cohort studies offer distinct advantages to some of the resource-intensive large-scale cohort studies under consideration, and may be more acceptable to many of the countries around the world currently considering such projects.

摘要

人类基因组计划的完成激发了对开展大规模队列研究的新思考;正如所提议的,这些研究将有别于以往的大规模队列研究,并且将主要聚焦于基因变异如何与环境暴露相互作用以影响常见人类疾病的风险。对于基因 - 环境相互作用的大规模研究而言,不存在单一的“最佳设计”。有些研究在队列研究中开展最为合适,因为可以在疾病发生前数年无偏地收集个体信息。其他一些研究采用病例对照设计并利用当前可用的自动化数据可能最为高效。带有巢式病例对照或病例队列研究的基于人群的生物样本库,相对于一些正在考虑的资源密集型大规模队列研究具有明显优势,并且对于目前正在考虑此类项目的世界上许多国家而言可能更容易接受。

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