'Mendelian randomization': an approach for exploring causal relations in epidemiology

Public Health. 2017 Apr;145:113-119. doi: 10.1016/j.puhe.2016.12.033. Epub 2017 Jan 21.


Objectives: To assess the current status of Mendelian randomization (MR) approach in effectively influencing the observational epidemiology for examining causal relationships.

Methods: Narrative review on studies related to principle, strengths, limitations, and achievements of MR approach.

Results: Observational epidemiological studies have repeatedly produced several beneficiary associations which were discarded when tested by standard randomized controlled trials (RCTs). The technique which is more feasible, highly similar to RCTs, and has the potential to establish a causal relationship between modifiable exposures and disease outcomes is known as MR. The technique uses genetic variants related to modifiable traits/exposures as instruments for detecting causal and directional associations with outcomes.

Conclusions: In the last decade, the approach of MR has methodologically developed and progressed to a stage of high acceptance among the epidemiologists and is gradually expanding the landscape of causal relationships in non-communicable chronic diseases.

Keywords: Epidemiology; Genome-wide association studies; India; Mendelian randomization.

Publication types

  • Review

MeSH terms

  • Causality*
  • Epidemiologic Methods*
  • Genetic Variation*
  • Genome-Wide Association Study
  • Humans
  • Mendelian Randomization Analysis / methods*
  • Random Allocation
  • Randomized Controlled Trials as Topic*