Jun 28, 2016

Selecting instruments for Mendelian randomization in the wake of genome-wide association studies

International Journal of Epidemiology
Daniel I SwerdlowAroon D Hingorani

Abstract

Mendelian randomization (MR) studies typically assess the pathogenic relevance of environmental exposures or disease biomarkers, using genetic variants that instrument these exposures. The approach is gaining popularity-our systematic review reveals a greater than 10-fold increase in MR studies published between 2004 and 2015. When the MR paradigm was first proposed, few biomarker- or exposure-related genetic variants were known, most having been identified by candidate gene studies. However, genome-wide association studies (GWAS) are now providing a rich source of potential instruments for MR analysis. Many early reviews covering the concept, applications and analytical aspects of the MR technique preceded the surge in GWAS, and thus the question of how best to select instruments for MR studies from the now extensive pool of available variants has received insufficient attention. Here we focus on the most common category of MR studies-those concerning disease biomarkers. We consider how the selection of instruments for MR analysis from GWAS requires consideration of: the assumptions underlying the MR approach; the biology of the biomarker; the genome-wide distribution, frequency and effect size of biomarker-associated variants...Continue Reading

  • References120
  • Citations23

References

Mentioned in this Paper

Biological Markers
Genome-Wide Association Study
Study
Mendelian Randomization Analysis
Magnetic Resonance Imaging
Genome
Pathogenic Organism
Reinforcing Factors
Environment
Clinical Investigators

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