Interaction between plasma homocysteine and the MTHFR c.677C > T polymorphism is associated with site-specific changes in DNA methylation in humans

What is it about?

A previous study by Friso et al. (PNAS 2002) has shown that folate status is associated with reduced genomic DNA methylation through a direct interaction with the common c.677C>T polymorphism in the MTHFR gene. This has highlighted an important epigenetic mechanism that links dietary exposure to aberrant genome regulation. To build on this observation, we sought to provide a direct link between perturbations in folate mediated one-carbon metabolism and epigenetic regulation of the genome via site-specific DNA methylation through an interaction between total plasma homocysteine - an integrative biomarker of one-carbon metabolism - and the activity of MTHFR enzyme. We identify a number of sites/loci that are dynamically regulated by this interaction.

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