Context‐Stratified Mendelian Randomization: Exploiting Regional Exposure Variation to Explore Causal Effect Heterogeneity and Nonlinearity

Mendelian randomization (MR) uses genetic variants as instrumental variables (IVs) to make causal claims. Standard MR approaches typically report a single population-averaged estimate, limiting their ability to explore effect heterogeneity or nonlinear dose-response relationships. Existing stratification methods, such as residual-based and doubly-ranked stratified MR, attempt to overcome this but rely on strong and unverifiable assumptions. We propose an alternative, context-stratified Mendelian randomization, which exploits exogenous variation in the exposure across subgroups-such as recruitment centers, geographic regions, or time periods-to investigate effect heterogeneity and nonlinearity. Separate MR analyses are performed within each context, and heterogeneity in the resulting estimates is assessed using Cochran's Q statistic and meta-regression. We demonstrate through simulations that the approach detects heterogeneity when present while maintaining nominal false positive rates under homogeneity when appropriate methods are used. In an applied example using UK Biobank data, we assess the effect of vitamin D levels on coronary artery disease risk across 20 recruitment centers. Despite some regional variation in vitamin D distributions, there is no evidence for a causal effect or heterogeneity in estimates. Compared to stratification methods requiring model-based assumptions, the context-stratified approach is simple to implement and unaffected by collider bias, provided the context variable is exogenous. However, the method's power and interpretability depend critically on meaningful exogenous variation in exposure distributions between contexts. In the example of vitamin D, subgroups from other stratification methods explored a much wider range of the exposure distribution.

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Publication Details

Journal
Statistics in Medicine
Published
2026-09-01
DOI
https://doi.org/10.1002/sim.70727
Primary Topic
Gene expression and cancer classification
Type
article
Field-Weighted Citation Impact
0.00

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article

Context‐Stratified Mendelian Randomization: Exploiting Regional Exposure Variation to Explore Causal Effect Heterogeneity and Nonlinearity

Benjamin Woolf, Amy M. Mason, Stephen Burgess
Statistics in Medicine
Gene expression and cancer classification
article

Context‐Stratified Mendelian Randomization: Exploiting Regional Exposure Variation to Explore Causal Effect Heterogeneity and Nonlinearity

Benjamin Woolf, Amy M. Mason, Stephen Burgess
article en

Abstract

Mendelian randomization (MR) uses genetic variants as instrumental variables (IVs) to make causal claims. Standard MR approaches typically report a single population-averaged estimate, limiting their ability to explore effect heterogeneity or nonlinear dose-response relationships. Existing stratification methods, such as residual-based and doubly-ranked stratified MR, attempt to overcome this but rely on strong and unverifiable assumptions. We propose an alternative, context-stratified Mendelian randomization, which exploits exogenous variation in the exposure across subgroups-such as recruitment centers, geographic regions, or time periods-to investigate effect heterogeneity and nonlinearity. Separate MR analyses are performed within each context, and heterogeneity in the resulting estimates is assessed using Cochran's Q statistic and meta-regression. We demonstrate through simulations that the approach detects heterogeneity when present while maintaining nominal false positive rates under homogeneity when appropriate methods are used. In an applied example using UK Biobank data, we assess the effect of vitamin D levels on coronary artery disease risk across 20 recruitment centers. Despite some regional variation in vitamin D distributions, there is no evidence for a causal effect or heterogeneity in estimates. Compared to stratification methods requiring model-based assumptions, the context-stratified approach is simple to implement and unaffected by collider bias, provided the context variable is exogenous. However, the method's power and interpretability depend critically on meaningful exogenous variation in exposure distributions between contexts. In the example of vitamin D, subgroups from other stratification methods explored a much wider range of the exposure distribution.

Statistics in MedicineVol. 45(20-22)
University of Cambridge (GB), University of Bristol (GB), MRC Biostatistics Unit (GB), Medical Research Council (GB)
Wellcome Trust, Scottish Government, UK Research and Innovation, National Institute for Health and Care Research, British Heart Foundation, Department of Health and Social Care, Public Health Agency, Chief Scientist Office, Scottish Government Health and Social Care Directorate, Medical Research Council, Engineering and Physical Sciences Research Council, Economic and Social Research Council, Health and Social Care Research and Development Division, NIHR Cambridge Biomedical Research Centre
Openalex Percentile: Top 99%
Gene expression and cancer classification
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