Mendelian randomization studies of coffee and caffeine consumption

Marilyn C. Cornelis*, Marcus R. Munafo

*Corresponding author for this work

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

57 Citations (Scopus)
331 Downloads (Pure)


Habitual coffee and caffeine consumption has been reported to be associated with numerous health outcomes. This perspective focuses on Mendelian Randomization (MR) approaches for determining whether such associations are causal. Genetic instruments for coffee and caffeine consumption are described, along with key concepts of MR and particular challenges when applying this approach to studies of coffee and caffeine. To date, at least fifteen MR studies have investigated the causal role of coffee or caffeine use on risk of type 2 diabetes, cardiovascular disease, Alzheimer’s disease, Parkinson’s disease, gout, osteoarthritis, cancers, sleep disturbances and other substance use. Most studies provide no consistent support for a causal role of coffee or caffeine on these health outcomes. Common study limitations include low statistical power, potential pleiotropy, and risk of collider bias. As a result, in many cases a causal role cannot confidently be ruled out. Conceptual challenges also arise from the different aspects of coffee and caffeine use captured by current genetic instruments. Nevertheless, with continued genome-wide searches for coffee and caffeine related loci along with advanced statistical methods and MR designs, MR promises to be a valuable approach to understanding the causal impact that coffee and caffeine have in human health.

Original languageEnglish
Article number1343
Number of pages19
Issue number10
Early online date20 Sept 2018
Publication statusPublished - 1 Oct 2018

Structured keywords

  • Brain and Behaviour
  • Tobacco and Alcohol


  • Behavior
  • Caffeine
  • Causality
  • Coffee
  • Epidemiological methods
  • Genetic epidemiology
  • Mendelian randomization


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