Little Julian, Higgins Julian P T, Ioannidis John P A, Moher David, Gagnon France, von Elm Erik, Khoury Muin J, Cohen Barbara, Davey-Smith George, Grimshaw Jeremy, Scheet Paul, Gwinn Marta, Williamson Robin E, Zou Guang Yong, Hutchings Kim, Johnson Candice Y, Tait Valerie, Wiens Miriam, Golding Jean, van Duijn Cornelia, McLaughlin John, Paterson Andrew, Wells George, Fortier Isabel, Freedman Matthew, Zecevic Maja, King Richard, Infante-Rivard Claire, Stewart Alex F, Birkett Nick
Department of Epidemiology and Community Medicine, University of Ottawa, Ottawa, Ontario, Canada.
J Clin Epidemiol. 2009 Jun;62(6):597-608.e4. doi: 10.1016/j.jclinepi.2008.12.004. Epub 2009 Feb 12.
Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence, the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association (STREGA) studies initiative builds on the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modeling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data, and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed, but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct, or analysis.
理解关于基因关联的快速演变的证据，对于在人类基因组学方面取得真正进展以及最终将这些信息整合到医学和公共卫生实践中至关重要。对这一证据的优缺点进行评估，以及因此对其进行综合的能力，一直受到结果报告不充分的限制。加强基因关联报告（STREGA）研究倡议以加强流行病学观察性研究报告（STROBE）声明为基础，并对STROBE清单中的22项中的12项进行了补充。这些补充涉及群体分层、基因分型错误、单倍型变异建模、哈迪-温伯格平衡、重复、参与者选择、基因和变异选择的理由、研究数量性状时的治疗效果、统计方法、相关性、描述性和结果数据的报告，以及基因关联研究中需要考虑的重要数据量问题。STREGA建议并未规定或指示基因关联研究应如何设计，而是力求提高其报告的透明度，无论在设计、实施或分析过程中做出了何种选择。
