Methylenetetrahydrofolate reductase polymorphisms, folate, and cancer risk: a paradigm of gene-nutrient interactions in carcinogenesis

Nutr Rev. 2000 Jul;58(7):205-9. doi: 10.1111/j.1753-4887.2000.tb01863.x.


Recent epidemiologic studies suggest that common polymorphisms of methylenetetrahydrofolate reductase (MTHFR) with allele frequencies up to 35% in the general North American population may modulate cancer risk. In some cancers, folate and other nutrients involved in the MTHFR metabolic pathway appear to interact with MTHFR polymorphisms to further modify cancer risk. In carcinogenesis, MTHFR polymorphisms thus provide a paradigm of gene-nutrient interactions, an emerging and important topic in the field of nutrition and cancer. Furthermore, MTHFR polymorphisms and MTHFR-nutrient interactions provide an opportunity to identify an ideal target group of individuals, at high risk of developing cancer, for rational, effective, and safe chemoprevention using these nutrients.

Publication types

  • Review

MeSH terms

  • DNA Methylation
  • Folic Acid* / metabolism
  • Folic Acid* / physiology
  • Folic Acid* / therapeutic use
  • Humans
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Neoplasms / genetics*
  • Neoplasms / prevention & control
  • Oxidoreductases Acting on CH-NH Group Donors* / genetics
  • Oxidoreductases Acting on CH-NH Group Donors* / metabolism
  • Oxidoreductases Acting on CH-NH Group Donors* / physiology
  • Risk Factors


  • Folic Acid
  • Oxidoreductases Acting on CH-NH Group Donors
  • Methylenetetrahydrofolate Reductase (NADPH2)