Mendelian randomization: Using genes as instruments for making causal inferences in epidemiology

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Abstract

Observational epidemiological studies suffer from many potential biases, from confounding and from reverse causation, and this limits their ability to robustly identify causal associations. Several high-profile situations exist in which randomized controlled trials of precisely the same intervention that has been examined in observational studies have produced markedly different findings. In other observational sciences, the use of instrumental variable (IV) approaches has been one approach to strengthening causal inferences in non-experimental situations. The use of germline genetic variants that proxy for environmentally modifiable exposures as instruments for these exposures is one form of IV analysis that can be implemented within observational epidemiological studies. The method has been referred to as `Mendelian randomization', and can be considered as analogous to randomized controlled trials. This paper outlines Mendelian randomization, draws parallels with IV methods, provides examples of implementation of the approach and discusses limitations of the approach and some methods for dealing with these. Copyright (c) 2007 John Wiley & Sons, Ltd.

Translated title of the contributionMendelian randomization: Using genes as instruments for making causal inferences in epidemiology
Original languageEnglish
Pages (from-to)1133-1163
Number of pages31
JournalStatistics in Medicine
Volume27
Issue number8
DOIs
Publication statusPublished - 15 Apr 2008

Bibliographical note

Other: Accepted December 2006; Published online 20 September 2007

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