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Low erythrocyte folate status and polymorphic variation in folate-related genes are associated with risk of neural tube defect pregnancy

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.

Publication metadata

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


DOI: 10.1016/j.ymgme.2003.12.010

PubMed id: 15059614


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