DNA methylation in white blood cells: association with risk factors in epidemiologic studies

Epigenetics. 2011 Jul;6(7):828-37. doi: 10.4161/epi.6.7.16500. Epub 2011 Jul 1.


Alterations in DNA methylation patterns, both at specific loci and overall in the genome, have been associated with many different health outcomes. In cancer and other diseases, most of these changes have been observed at the tissue level. Data on whether DNA methylation changes in white blood cells (WBC) can serve as a useful biomarker for different health outcomes are much more limited, but rapidly emerging. Epidemiologic studies have reported associations between global WBC methylation and several different cancers including cancers of the colon, bladder, stomach, breast and head and neck, as well as schizophrenia and myelodysplastic syndrome. Evidence for WBC methylation at specific loci and disease risk is more limited, but increasing. Differences in WBC DNA methylation by selected risk factors including demographic (age, gender, race), environmental exposures (benzene, persistent organic pollutants, lead, arsenic, and air pollution), and other risk factors (cigarette smoke, alcohol drinking, body size, physical activity and diet) have been observed in epidemiologic studies though the patterns are far from consistent. Challenges in inferences from the existing data are primarily due to the cross-sectional and small size of most studies to date as well as the differences in results across assay type and source of DNA. Large, prospective studies will be needed to understand whether changes in risk factors are associated with changes in DNA methylation patterns, and if changes in DNA methylation patterns are associated with changes in disease endpoints.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Air Pollution / adverse effects
  • Alcohol Drinking / adverse effects
  • DNA Methylation*
  • Environmental Exposure / adverse effects*
  • Epidemiologic Studies
  • Humans
  • Leukocytes / metabolism*
  • Neoplasms / chemically induced
  • Neoplasms / epidemiology*
  • Neoplasms / genetics*
  • Nicotiana / adverse effects
  • Risk Factors
  • Smoke / adverse effects


  • Smoke