The role of estimation in Mendelian randomization: should Mendelian randomization investigations provide estimates?

Mendelian randomization (MR) makes causal claims by treating genetic variation in an analogous way to randomization in a clinical trial. MR investigations can be viewed as analogous to a randomized encouragement design, in that genetic variants do not determine the precise level of an exposure, but increase liability to it. As such, an MR estimate typically does not represent an achievable or well-defined causal effect in terms of the exposure, as it reflects the impact of a life-long shift in the trajectory of the exposure, which likely differs between individuals. We advocate for MR investigations to be performed to assess evidence for a causal hypothesis, rather than to estimate a well-defined causal quantity. MR estimates are useful to combine evidence across genetic variants, to assess the validity of variants as instruments, to provide confidence intervals, and to compare estimates across outcomes. However, numerical estimates from MR should not be over-interpreted. The value of an MR investigation is not to quantify the magnitude of effect for a well-defined intervention in the exposure. Instead, it provides a distinct source of evidence to increase or decrease confidence in a causal hypothesis, which can be triangulated with evidence from other sources.

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Publication Details

Journal
AJE Advances Research in Epidemiology
Published
2025-04-01
DOI
https://doi.org/10.1093/ajeadv/uuaf003
Citations
5
Primary Topic
Genetic Associations and Epidemiology
Type
article
Field-Weighted Citation Impact
9.09

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article

The role of estimation in Mendelian randomization: should Mendelian randomization investigations provide estimates?

Benjamin Woolf, Stephen Burgess
5 citations
AJE Advances Research in Epidemiology
Genetic Associations and Epidemiology
9.09
article

The role of estimation in Mendelian randomization: should Mendelian randomization investigations provide estimates?

Benjamin Woolf, Stephen Burgess
article en
5 citations

Abstract

Mendelian randomization (MR) makes causal claims by treating genetic variation in an analogous way to randomization in a clinical trial. MR investigations can be viewed as analogous to a randomized encouragement design, in that genetic variants do not determine the precise level of an exposure, but increase liability to it. As such, an MR estimate typically does not represent an achievable or well-defined causal effect in terms of the exposure, as it reflects the impact of a life-long shift in the trajectory of the exposure, which likely differs between individuals. We advocate for MR investigations to be performed to assess evidence for a causal hypothesis, rather than to estimate a well-defined causal quantity. MR estimates are useful to combine evidence across genetic variants, to assess the validity of variants as instruments, to provide confidence intervals, and to compare estimates across outcomes. However, numerical estimates from MR should not be over-interpreted. The value of an MR investigation is not to quantify the magnitude of effect for a well-defined intervention in the exposure. Instead, it provides a distinct source of evidence to increase or decrease confidence in a causal hypothesis, which can be triangulated with evidence from other sources.

AJE Advances Research in EpidemiologyVol. 1(1)
University of Cambridge (GB), University of Bristol (GB), MRC Biostatistics Unit (GB), MRC Epidemiology Unit (GB)
Wellcome Trust, Medical Research Council, Economic and Social Research Council
Openalex Percentile: Top 2%
Genetic Associations and Epidemiology
9.09
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