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

Published online by Cambridge University Press:  07 March 2007

Ivon J. M. van der Linden ,
Lydia A. Afman ,
Sandra G. Heil  and
Henk J. Blom
Ivon J. M. van der Linden
Affiliation:
Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Center, PO Box 9101, 6500 HB Nijmegen, The Netherlands
Lydia A. Afman
Affiliation:
Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Center, PO Box 9101, 6500 HB Nijmegen, The Netherlands
Sandra G. Heil
Affiliation:
Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Center, PO Box 9101, 6500 HB Nijmegen, The Netherlands
Henk J. Blom*
Affiliation:
Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Center, PO Box 9101, 6500 HB Nijmegen, The Netherlands
*
†Corresponding author: Dr Henk J. Blom, fax + 31 24 3668754, email h.blom@cukz.umcn.nl
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Abstract

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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.

Keywords

Neural-tube defectsFolateGenetic variation
Type
Symposium on ‘Micronutrients through the life cycle’
Information
Proceedings of the Nutrition Society , Volume 65 , Issue 2 , May 2006 , pp. 204 - 215
Copyright
Copyright © The Nutrition Society 2006

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