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

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

Mary Beth Terry  1 , Lissette Delgado-Cruzata, Neomi Vin-Raviv, Hui Chen Wu, Regina M Santella
Affiliations
Review

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

Mary Beth Terry et al. Epigenetics. 2011 Jul.

Abstract

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.

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Figures

Figure 1
Figure 1
Epidemiologic studies investigating the association between WBC global DNA methylation and cancer risk (comparing lowest quantile to highest quantile). Tertiles used are from references – and –. Quartiles used are from reference . Deciles used are from reference . +, upper 95% confidence limit exceeds 10.
Figure 2
Figure 2
Epidemiologic studies investigating the association between WBC gene-specific DNA methylation and cancer risk. Methylation cutpoints specific to each study, for details see references –.
See this image and copyright information in PMC

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