Environmental chemical exposures and human epigenetics

Int J Epidemiol. 2012 Feb;41(1):79-105. doi: 10.1093/ije/dyr154. Epub 2011 Dec 13.


Every year more than 13 million deaths worldwide are due to environmental pollutants, and approximately 24% of diseases are caused by environmental exposures that might be averted through preventive measures. Rapidly growing evidence has linked environmental pollutants with epigenetic variations, including changes in DNA methylation, histone modifications and microRNAs. Environ mental chemicals and epigenetic changes All of these mechanisms are likely to play important roles in disease aetiology, and their modifications due to environmental pollutants might provide further understanding of disease aetiology, as well as biomarkers reflecting exposures to environmental pollutants and/or predicting the risk of future disease. We summarize the findings on epigenetic alterations related to environmental chemical exposures, and propose mechanisms of action by means of which the exposures may cause such epigenetic changes. We discuss opportunities, challenges and future directions for future epidemiology research in environmental epigenomics. Future investigations are needed to solve methodological and practical challenges, including uncertainties about stability over time of epigenomic changes induced by the environment, tissue specificity of epigenetic alterations, validation of laboratory methods, and adaptation of bioinformatic and biostatistical methods to high-throughput epigenomics. In addition, there are numerous reports of epigenetic modifications arising following exposure to environmental toxicants, but most have not been directly linked to disease endpoints. To complete our discussion, we also briefly summarize the diseases that have been linked to environmental chemicals-related epigenetic changes.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • DNA Methylation / genetics
  • Environmental Exposure* / statistics & numerical data
  • Environmental Pollutants / toxicity*
  • Epigenesis, Genetic / genetics*
  • Gene-Environment Interaction*
  • Genetic Variation
  • Histones / genetics
  • Humans
  • MicroRNAs / genetics


  • Environmental Pollutants
  • Histones
  • MicroRNAs