A Guide to Understanding Mendelian Randomization Studies

IF 3.7 2区 医学 Q1 RHEUMATOLOGY
Kevin Nguyen, Braxton D. Mitchell
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引用次数: 0

Abstract

Epidemiology provides a powerful framework for characterizing exposure–disease relationships, but its utility for making causal inferences is limited because epidemiologic data are observational in nature and subject to biases stemming from undetected confounding variables and reverse causation. Mendelian randomization (MR) is an increasingly popular method used to circumvent these limitations. MR uses genetic variants, or instruments, as a natural experiment to proxy an exposure, thus allowing estimation of causal effects upon an outcome that are minimally affected by the usual biases present in epidemiologic studies. Notably, MR relies on three core assumptions related to the selection of the genetic instruments, and adherence to these assumptions must be carefully evaluated to assess the validity of the causal estimates. The goal of this review is to provide readers with a basic understanding of MR studies and how to read and evaluate them. Specifically, we outline the basics of how MR analysis is conducted, the assumptions underlying instrument selection, and how to assess the quality of MR studies.

孟德尔随机化研究理解指南》。
流行病学为描述暴露与疾病之间的关系提供了一个强大的框架,但由于流行病学数据是观察性的,容易受到未发现的混杂变量和反向因果关系的影响,因此它在因果推断方面的作用有限。孟德尔随机化(MR)是一种日益流行的方法,用来规避这些局限性。孟德尔随机化法利用基因变异或工具作为自然实验来替代暴露,从而可以估算出对结果的因果效应,并将流行病学研究中常见的偏差影响降至最低。值得注意的是,MR 依赖于与遗传工具选择相关的三个核心假设,必须仔细评估这些假设的遵守情况,以评估因果关系估计的有效性。本综述旨在让读者对 MR 研究有一个基本的了解,并知道如何阅读和评估这些研究。具体来说,我们概述了如何进行 MR 分析、工具选择的基本假设以及如何评估 MR 研究的质量。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
9.40
自引率
6.40%
发文量
368
审稿时长
3-6 weeks
期刊介绍: Arthritis Care & Research, an official journal of the American College of Rheumatology and the Association of Rheumatology Health Professionals (a division of the College), is a peer-reviewed publication that publishes original research, review articles, and editorials that promote excellence in the clinical practice of rheumatology. Relevant to the care of individuals with rheumatic diseases, major topics are evidence-based practice studies, clinical problems, practice guidelines, educational, social, and public health issues, health economics, health care policy, and future trends in rheumatology practice.
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