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Lookup NU author(s): Professor Caroline Relton, Professor Sir John BurnORCiD
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Previous studies have shown conflicting findings in linking polymorphic variation in folate-related genes to the risk of neural tube defect pregnancy. Recent evidence points to maternal genotype being important in determining NTD risk. A case-control study was undertaken in 97 mothers of NTD cases from the northern region of the UK. Pregnant controls (n=190) from a regional DNA bank and non-pregnant controls (n=100) from the same geographical area were recruited. MTHFR 677CT, MTHFR 1298AC, MTRR 66AG, SHMT 1420CT, CβS 844ins68, and RFC-1 80GA allele and genotype frequencies were determined and odds ratios (OR) calculated. Erythrocyte folate levels for cases and controls were also measured and a comparison made of median erythrocyte folate levels stratified according to genotype. The MTHFR 677CT variant was not shown to be an independent NTD risk factor in mothers of NTD-affected pregnancy. A second polymorphism in MTHFR, 1298AC, was less frequently observed in mothers of NTD cases (OR [95% CI]=0.57 [0.33, 0.97]). Possession of compound 1298AC and 677CT variants elevated risk of NTD pregnancy considerably (TT/AC+TT/CC vs CC/AA OR [95% CI]=6.56 [1.10, 39.33]). Erythrocyte folate levels were persistently lower in NTD mothers (p=0.001) despite assays being conducted many years after the index pregnancy (17.6±12.6 years). Erythrocyte folate levels were depressed in the presence of the MTHFR 677CT variant. © 2004 Elsevier Inc. All rights reserved.
Author(s): Relton CL, Wilding CS, Laffling AJ, Jonas PA, Burgess T, Binks K, Tawn EJ, Burn J
Publication type: Article
Publication status: Published
Journal: Molecular Genetics and Metabolism
Year: 2004
Volume: 81
Issue: 4
Pages: 273-281
ISSN (print): 1096-7192
ISSN (electronic): 1096-7206
Publisher: Academic Press
URL: http://dx.doi.org/10.1016/j.ymgme.2003.12.010
DOI: 10.1016/j.ymgme.2003.12.010
PubMed id: 15059614
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