Reading Mendelian randomisation studies: a guide, glossary, and checklist for clinicians

BMJ. 2018 Jul 12:362:k601. doi: 10.1136/bmj.k601.


Mendelian randomisation uses genetic variation as a natural experiment to investigate the causal relations between potentially modifiable risk factors and health outcomes in observational data. As with all epidemiological approaches, findings from Mendelian randomisation studies depend on specific assumptions. We provide explanations of the information typically reported in Mendelian randomisation studies that can be used to assess the plausibility of these assumptions and guidance on how to interpret findings from Mendelian randomisation studies in the context of other sources of evidence

MeSH terms

  • Causality*
  • Confounding Factors, Epidemiologic*
  • Effect Modifier, Epidemiologic*
  • Genetic Variation
  • Genome-Wide Association Study / statistics & numerical data*
  • Humans
  • Mendelian Randomization Analysis*
  • Observational Studies as Topic / statistics & numerical data*
  • Outcome Assessment, Health Care / methods
  • Public Health