Maternal Folate and DNA Methylation in Offspring

  • Emma L. BeckettEmail author
  • Mark Lucock
  • Martin Veysey
  • Bonnie R. Joubert
Reference work entry


Folate plays a critical role in DNA methylation as it is a key source of methyl donors via the one-carbon metabolism cycle. Folate supplementation is recommended during the periconceptional period for the prevention of neural tube defects in offspring. However, maternal folate levels during pregnancy may also influence the risk of many other conditions in offspring, but the underlying mechanisms involved are unclear. As such, it is important to investigate the possible association between maternal folate status and disease risk that act via modulation of the methylome. Improving methods and technologies available for profiling DNA methylation has allowed for rapidly expanding investigations in this field; however, limitations in study design remain. On the available evidence, global DNA methylation does not appear to be associated with maternal folate status in cord blood samples, but this response may be tissue specific as correlations have been found in fetal brains and adult murine intestines. Several studies have shown differential locus-specific methylation in response to maternal folate status. However, results may vary depending on the assay methods employed, including different assessments of the methylome, different measures of folate status, and cohort composition. Although maternal folate status is linked to disease risk, additional research is required to link this modulation of the methylome to altered health and disease outcomes.


Folate/folic acid Maternal diet Methylation Methylome Methyl One-carbon metabolism Offspring Newborn Epigenome 

List of Abbreviations




One-carbon metabolism








Activation-induced deaminase




Dihydrofolate reductase


Differentially methylated region


DNA methyltransferase


Developmental origins of health and disease


Intracisternal A particle


Methylation-specific polymerase chain reaction


Methylation-specific quantitative polymerase chain reaction


Methylenetetrahydrofolate reductase


Methionine synthase


Methionine synthase reductase


Neural tube defects






Serine hydroxymethyltransferase


Ten-eleven translocation




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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Emma L. Beckett
    • 1
    Email author
  • Mark Lucock
    • 2
  • Martin Veysey
    • 3
  • Bonnie R. Joubert
    • 4
  1. 1.School of Medicine and Public HealthThe University of NewcastleOurimbahAustralia
  2. 2.School of Environmental and Life SciencesThe University of NewcastleOurimbahAustralia
  3. 3.School of Medicine and Public HealthThe University of Newcastle, Gosford HospitalGosfordAustralia
  4. 4.Population Health BranchNational Institute of Environmental and Health SciencesDurhamUSA

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