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

  • Ivon J. M. van der Linden (a1), Lydia A. Afman (a1), Sandra G. Heil (a1) and Henk J. Blom (a1)
  • DOI: http://dx.doi.org/10.1079/PNS2006495
  • Published online: 01 March 2007
Abstract

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.

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Corresponding author
*The other papers from this symposium were published in Proceedings of the Nutrition Society (2005), 64, 491–570.
Corresponding author: Dr Henk J. Blom, fax + 31 24 3668754, email h.blom@cukz.umcn.nl
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