English

Selecting invalid instruments to improve Mendelian randomization with two-sample summary data

Methodology 2023-04-26 v3

Abstract

Mendelian randomization (MR) is a widely-used method to estimate the causal relationship between a risk factor and disease. A fundamental part of any MR analysis is to choose appropriate genetic variants as instrumental variables. Genome-wide association studies often reveal that hundreds of genetic variants may be robustly associated with a risk factor, but in some situations investigators may have greater confidence in the instrument validity of only a smaller subset of variants. Nevertheless, the use of additional instruments may be optimal from the perspective of mean squared error even if they are slightly invalid; a small bias in estimation may be a price worth paying for a larger reduction in variance. For this purpose, we consider a method for "focused" instrument selection whereby genetic variants are selected to minimise the estimated asymptotic mean squared error of causal effect estimates. In a setting of many weak and locally invalid instruments, we propose a novel strategy to construct confidence intervals for post-selection focused estimators that guards against the worst case loss in asymptotic coverage. In empirical applications to: (i) validate lipid drug targets; and (ii) investigate vitamin D effects on a wide range of outcomes, our findings suggest that the optimal selection of instruments does not involve only a small number of biologically-justified instruments, but also many potentially invalid instruments.

Keywords

Cite

@article{arxiv.2107.01513,
  title  = {Selecting invalid instruments to improve Mendelian randomization with two-sample summary data},
  author = {Ashish Patel and Francis J. DiTraglia and Verena Zuber and Stephen Burgess},
  journal= {arXiv preprint arXiv:2107.01513},
  year   = {2023}
}

Comments

44 pages, 13 figures

R2 v1 2026-06-24T03:52:14.260Z