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[基于孟德尔随机化研究影响因果推断与解释的挑战及因素]

[Challenges and factors that influencing causal inference and interpretation, based on Mendelian randomization studies].

作者信息

Wang Y Z, Shen H B

机构信息

Department of Epidemiology, School of Public Health, Nanjing Medical University, Nanjing 211166, China.

出版信息

Zhonghua Liu Xing Bing Xue Za Zhi. 2020 Aug 10;41(8):1231-1236. doi: 10.3760/cma.j.cn112338-20200521-00749.

DOI:10.3760/cma.j.cn112338-20200521-00749
PMID:32867428
Abstract

Genetic variation is used as instrumental variable to investigate the causal relationship between exposure and outcome, which can avoid issues of confounding and reserve causation regarding Mendelian randomization studies. However, the instrumental variables in Mendelian randomization studies must satisfy three core assumptions-the relevance assumption, the independence assumption, and the exclusion restriction assumption. In addition to the plausibility of core assumptions, the application of Mendelian randomization studies in causal inference is also subject to other limitations. Findings from the Mendelian randomization studies should be interpreted in the context of existing evidence from other sources. In this article we provide an overview of the assumptions, limitations, and interpretation on causal inference that related to Mendelian randomization studies that can be applied in studies of the same kind.

摘要

基因变异被用作工具变量来研究暴露与结局之间的因果关系,这可以避免孟德尔随机化研究中的混杂问题和反向因果关系。然而,孟德尔随机化研究中的工具变量必须满足三个核心假设——相关性假设、独立性假设和排他性限制假设。除了核心假设的合理性外,孟德尔随机化研究在因果推断中的应用还受到其他限制。孟德尔随机化研究的结果应结合其他来源的现有证据进行解释。在本文中,我们概述了与孟德尔随机化研究相关的因果推断的假设、局限性及解释,这些内容可应用于同类研究。

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