Faculty, Staff and Student Publications

Language

English

Publication Date

12-31-2025

Journal

Biostatistics

DOI

10.1093/biostatistics/kxae037

PMID

39412139

PMCID

PMC11823199

PubMedCentral® Posted Date

10-16-2024

PubMedCentral® Full Text Version

Post-print

Abstract

Mediation analysis is a useful tool in investigating how molecular phenotypes such as gene expression mediate the effect of exposure on health outcomes. However, commonly used mean-based total mediation effect measures may suffer from cancellation of component-wise mediation effects in opposite directions in the presence of high-dimensional omics mediators. To overcome this limitation, we recently proposed a variance-based R-squared total mediation effect measure that relies on the computationally intensive nonparametric bootstrap for confidence interval estimation. In the work described herein, we formulated a more efficient two-stage, cross-fitted estimation procedure for the R2 measure. To avoid potential bias, we performed iterative Sure Independence Screening (iSIS) in two subsamples to exclude the non-mediators, followed by ordinary least squares regressions for the variance estimation. We then constructed confidence intervals based on the newly derived closed-form asymptotic distribution of the R2 measure. Extensive simulation studies demonstrated that this proposed procedure is much more computationally efficient than the resampling-based method, with comparable coverage probability. Furthermore, when applied to the Framingham Heart Study, the proposed method replicated the established finding of gene expression mediating age-related variation in systolic blood pressure and identified the role of gene expression profiles in the relationship between sex and high-density lipoprotein cholesterol level. The proposed estimation procedure is implemented in R package CFR2M.

Keywords

Humans, Mediation Analysis, Models, Statistical, Male, Computer Simulation, Female, Blood Pressure, Data Interpretation, Statistical, confidence interval, cross-fitting, gene expression, iterative sure independence screening, mediation analysis, R 2 total mediation effect measure

Published Open-Access

yes

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