Epidemiology, epigenetics, and psychopathology

Angela C. Bustamante, Monica Uddin

Research output: Contribution to journalReview articlepeer-review


The link between environmental exposure and onset of psychopathology has been well documented, yet the pathway is not fully understood. Epigenetic modifications are thought to play a role in the manifestation of disease as studies have shown that early environmental exposures can influence epigenetic variation in both humans and other animals. As a result, epigenetic epidemiology studies with a specific focus on psychopathology will play an important role in elucidating the pathway to disease onset. In order to gain a clear perspective of where this field currently stands, here we provide a brief review of important issues in epigenetic epidemiology studies of psychopathology, including causal inference, common study designs, challenges faced with current study designs, and the importance of a life course perspective. We provide the reader with relevant examples of studies when appropriate, with a particular focus on studies that have examined the epigenetic modification of DNA methylation. Implications for future research are also discussed.

Original languageEnglish (US)
Pages (from-to)60-70
Number of pages11
JournalMedical Epigenetics
Issue number1
StatePublished - 2014
Externally publishedYes


  • Causal inference
  • Effect size
  • Intervention studies
  • Life course perspective
  • Longitudinal study
  • Monozygotic twin study
  • Retrospective case-control study
  • Tissue specificity

ASJC Scopus subject areas

  • Biochemistry
  • Genetics


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