Causal mediation analysis for time-varying heritable risk factors with Mendelian randomization

Abstract Understanding the causal mechanisms of diseases is crucial in clinical research. When randomized experiments are unavailable, Mendelian Randomization (MR) leverages genetic mutations to mitigate confounding. However, most MR analyses assume static risk factors, oversimplifying dynamic risk...

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Main Authors: Zixuan Wu, Ethan Lewis, Qingyuan Zhao, Jingshu Wang
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-025-61648-7
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author Zixuan Wu
Ethan Lewis
Qingyuan Zhao
Jingshu Wang
author_facet Zixuan Wu
Ethan Lewis
Qingyuan Zhao
Jingshu Wang
author_sort Zixuan Wu
collection DOAJ
description Abstract Understanding the causal mechanisms of diseases is crucial in clinical research. When randomized experiments are unavailable, Mendelian Randomization (MR) leverages genetic mutations to mitigate confounding. However, most MR analyses assume static risk factors, oversimplifying dynamic risk factor effects. The framework of life-course MR addresses this but struggles with limited GWAS cohort sizes and correlations across time points. We propose FLOW-MR, a computational approach estimating causal structural equations for temporally ordered traits using only GWAS summary statistics. FLOW-MR enables inference on direct, indirect, and path-wise causal effects, demonstrating superior efficiency and reliability, especially with noisy data. By incorporating a spike-and-slab prior, it mitigates challenges from extreme polygenicity and weak instruments. Applying FLOW-MR, we uncovered a childhood-specific protective effect of BMI on breast cancer and analyzed the evolving impacts of BMI, systolic blood pressure, and cholesterol on stroke risk, revealing their causal relationships.
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spelling doaj-art-b54a3378a1674fe7bfd883cf976665872025-08-20T03:46:25ZengNature PortfolioNature Communications2041-17232025-07-0116111010.1038/s41467-025-61648-7Causal mediation analysis for time-varying heritable risk factors with Mendelian randomizationZixuan Wu0Ethan Lewis1Qingyuan Zhao2Jingshu Wang3Department of Statistics, University of ChicagoDepartment of Statistics, University of ChicagoStatistical Laboratory, Department of Pure Mathematics and Mathematical Statistics, University of CambridgeDepartment of Statistics, University of ChicagoAbstract Understanding the causal mechanisms of diseases is crucial in clinical research. When randomized experiments are unavailable, Mendelian Randomization (MR) leverages genetic mutations to mitigate confounding. However, most MR analyses assume static risk factors, oversimplifying dynamic risk factor effects. The framework of life-course MR addresses this but struggles with limited GWAS cohort sizes and correlations across time points. We propose FLOW-MR, a computational approach estimating causal structural equations for temporally ordered traits using only GWAS summary statistics. FLOW-MR enables inference on direct, indirect, and path-wise causal effects, demonstrating superior efficiency and reliability, especially with noisy data. By incorporating a spike-and-slab prior, it mitigates challenges from extreme polygenicity and weak instruments. Applying FLOW-MR, we uncovered a childhood-specific protective effect of BMI on breast cancer and analyzed the evolving impacts of BMI, systolic blood pressure, and cholesterol on stroke risk, revealing their causal relationships.https://doi.org/10.1038/s41467-025-61648-7
spellingShingle Zixuan Wu
Ethan Lewis
Qingyuan Zhao
Jingshu Wang
Causal mediation analysis for time-varying heritable risk factors with Mendelian randomization
Nature Communications
title Causal mediation analysis for time-varying heritable risk factors with Mendelian randomization
title_full Causal mediation analysis for time-varying heritable risk factors with Mendelian randomization
title_fullStr Causal mediation analysis for time-varying heritable risk factors with Mendelian randomization
title_full_unstemmed Causal mediation analysis for time-varying heritable risk factors with Mendelian randomization
title_short Causal mediation analysis for time-varying heritable risk factors with Mendelian randomization
title_sort causal mediation analysis for time varying heritable risk factors with mendelian randomization
url https://doi.org/10.1038/s41467-025-61648-7
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AT ethanlewis causalmediationanalysisfortimevaryingheritableriskfactorswithmendelianrandomization
AT qingyuanzhao causalmediationanalysisfortimevaryingheritableriskfactorswithmendelianrandomization
AT jingshuwang causalmediationanalysisfortimevaryingheritableriskfactorswithmendelianrandomization