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孟德尔随机化:利用遗传学在观察性研究中进行因果推断。

Mendelian randomization: use of genetics to enable causal inference in observational studies.

机构信息

Department of Clinical Epidemiology, Leiden University Medical Center, P.O. Box 9600 2300 RC Leiden, The Netherlands.

出版信息

Nephrol Dial Transplant. 2010 May;25(5):1394-8. doi: 10.1093/ndt/gfq098. Epub 2010 Feb 26.

DOI:10.1093/ndt/gfq098
PMID:20190244
Abstract

The aim of aetiologic studies in epidemiology is to investigate whether factors are causally related to diseases and therefore become a potential target for therapeutic interventions. Mendelian randomization enables estimation of causal relationships in observational studies using genetic variants as instrumental variables. An instrumental variable is a variable that can be considered to mimic the coin toss in a randomized study. Given the random assignment of alleles in gamete formation, the use of genetic variants is an alternative method to control for confounding. This educational article describes the approach of Mendelian randomization, its underlying rationale and its necessary assumptions.

摘要

在流行病学中,病因研究的目的是调查因素是否与疾病有因果关系,从而成为治疗干预的潜在目标。孟德尔随机化可以利用遗传变异作为工具变量,在观察性研究中估计因果关系。工具变量可以被视为模拟随机研究中掷硬币的变量。由于配子形成中等位基因的随机分配,遗传变异的使用是控制混杂的一种替代方法。本文介绍了孟德尔随机化的方法、基本原理及其必要的假设。

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