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DNA Methylation–Based Biomarkers of Environmental Exposures for Human Population Studies


Purpose of Review

This manuscript orients the reader to the underlying motivations of environmental biomarker development for human population studies and provides the foundation for applying these novel biomarkers in future research. In this review, we focus our attention on the DNA methylation–based biomarkers of (i) smoking, among adults and pregnant women, (ii) lifetime cannabis use, (iii) alcohol consumption, and (iv) cumulative exposure to lead.

Recent Findings

Prior environmental exposures and lifestyle modulate DNA methylation levels. Exposure-related DNA methylation changes can either be persistent or reversible once the exposure is no longer present, and this combination of both persistent and reversible changes has essential value for biomarker development. Here, we present available biomarkers representing past and cumulative exposures using individual DNA methylation profiles.


In the present work, we describe how the field of environmental epigenetics can leverage machine learning algorithms to develop exposure biomarkers and reduce problems of misreporting exposures or limited access technology. We emphasize the crucial role of the individual DNA methylation profiles in those predictions, providing a summary of each biomarker, and highlighting their advantages, and limitations. Future research can cautiously leverage these DNA methylation–based biomarkers to understand the onset and progression of diseases.

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Fig. 1


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EC was supported by the National Institute on Minority Health and Health Disparities (NIMHD) (R01MD013310) and by the National Institute of Environmental Health Sciences (NIEHS) (P30ES023515, U2CES026444, and UH3OD023337). JCN was supported by a NIH/NIA Ruth L. Kirschstein National Research Service Award (1 F31AG056124-01A1).

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Correspondence to Elena Colicino.

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Nwanaji-Enwerem, J.C., Colicino, E. DNA Methylation–Based Biomarkers of Environmental Exposures for Human Population Studies. Curr Envir Health Rpt (2020).

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  • DNA methylation
  • Biomarkers
  • Environmental exposures
  • Smoking
  • Cannabis use
  • Alcohol
  • Lead exposure