Genetic variation in genes of folate metabolism and neural-tube defect risk

I.J. van der Linden, L.A. Afman, S.G. Heil, H.J. Blom

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Neural-tube defects (NTD) are common congenital malformations that can lead to severe disability or even death. Periconceptional supplementation with the B-vitamin folic acid has been demonstrated to prevent 50–70% of NTD cases. Since the identification of the first genetic risk factor of NTD, the C677T single-nucleotide polymorphism (SNP) in the methylenetetrahydrofolate reductase (MTHFR) gene, and the observation that elevated plasma homocysteine levels are associated with NTD, research has focused on genetic variation in genes encoding for enzymes of folate metabolism and the closely-related homocysteine metabolism. In the present review relevant SNP in genes that code for enzymes involved in folate transport and uptake, the folate cycles and homocysteine metabolism are summarised and the importance of these SNP discussed in relation to NTD risk.
Original languageEnglish
Pages (from-to)204-215
JournalProceedings of the Nutrition Society
Issue number2
Publication statusPublished - 2006


  • methionine synthase reductase
  • cystathionine beta-synthase
  • glutamate carboxypeptidase-ii
  • dehydrogenase-methenyltetrahydrofolate-cyclohydrolase
  • periconceptional vitamin supplementation
  • homocysteine methyltransferase bhmt
  • common polymorphic variants
  • c

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