Lookup NU author(s): Professor Caroline Relton,
Professor Sir John Burn
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
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
ISSN (print): 1096-7192
ISSN (electronic): 1096-7206
Publisher: Academic Press
PubMed id: 15059614
Altmetrics provided by Altmetric