Mendelian randomization: genetic anchors for causal inference in epidemiological studies

Research output: Contribution to journalArticle (Academic Journal)peer-review

650 Citations (Scopus)


Observational epidemiological studies are prone to confounding, reverse causation and various biases and have generated findings that have proved to be unreliable indicators of the causal effects of modifiable exposures on disease outcomes. Mendelian randomization (MR) is a method that utilizes genetic variants that are robustly associated with such modifiable exposures to generate more reliable evidence regarding which interventions should produce health benefits. The approach is being widely applied, and various ways to strengthen inference given the known potential limitations of MR are now available. Developments of MR, including two-sample MR, bidirectional MR, network MR, two-step MR, factorial MR and multiphenotype MR, are outlined in this review. The integration of genetic information into population-based epidemiological studies presents translational opportunities, which capitalize on the investment in genomic discovery research.

Original languageEnglish
Pages (from-to)R89-98
JournalHuman Molecular Genetics
Issue numberR1
Publication statusPublished - 15 Sep 2014


  • Causality
  • Epidemiologic Studies
  • Genetic Variation
  • Humans
  • Mendelian Randomization Analysis
  • Randomized Controlled Trials as Topic
  • Journal Article
  • Research Support, Non-U.S. Gov't
  • Review

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