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Variants in Maternal COMT and MTHFR Genes and Risk of Neural Tube Defects in Offspring

Overview
Journal Metab Brain Dis
Publisher Springer
Specialties Endocrinology
Neurology
Date 2014 Jul 4
PMID 24990354
Citations 5
Authors
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Abstract

Methylenetetrahydrofolate reductase (MTHFR) C677T and catechol-O-Methyltransferase (COMT) G158A are associated with a risk of neural tube defects (NTDs) in offspring. This study examined the effect of a MTHFR × COMT interaction on the risk of NTDs in a Chinese population with a high prevalence of NTDs. A total of 576 fetuses or newborns with NTDs and 594 controls were genotyped for MTHFRrs1801133, MTHFRrs1801131, and COMTrs4680 and COMTrs737865. Information on maternal sociodemographic characteristics, reproductive history, and related behavior was collected through face-to-face interviews. Possible interactions between genetic variants of MTHFR and COMT were examined. MTHFR C677T homozygous TT was associated with an elevated risk of total NTDs (odds ratio [OR] = 1.37, 95 % confidence interval [CI] = 0.93-2.03) and of anencephaly (OR = 1.67, 95 % CI = 0.98-2.84) compared with the CC genotype. There was a COMT rs737865 CC × MTHFR rs1801133 TT interaction for total NTDs (OR = 3.02, 95 % CI = 1.00-9.14) and for anencephaly (OR = 3.39, 95 % CI = 0.94-12.18). No interaction was found between COMT rs4680 AA/AG and MTHFR CT/TT genotypes for total NTDs or any subtype of NTD. The interaction of COMT rs737865 and MTHFR C677T was associated with an increased risk of NTDs, especially anencephaly, in a Chinese population with a high prevalence of NTDs.

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References
1.
Blom H, Smulders Y . Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects. J Inherit Metab Dis. 2010; 34(1):75-81. PMC: 3026708. DOI: 10.1007/s10545-010-9177-4. View

2.
Parle-McDermott A, Mills J, Kirke P, OLeary V, Swanson D, Pangilinan F . Analysis of the MTHFR 1298A-->C and 677C-->T polymorphisms as risk factors for neural tube defects. J Hum Genet. 2003; 48(4):190-3. DOI: 10.1007/s10038-003-0008-4. View

3.
Godbole K, Gayathri P, Ghule S, Sasirekha B, Kanitkar-Damle A, Memane N . Maternal one-carbon metabolism, MTHFR and TCN2 genotypes and neural tube defects in India. Birth Defects Res A Clin Mol Teratol. 2011; 91(9):848-56. DOI: 10.1002/bdra.20841. View

4.
Mills J, McPartlin J, Kirke P, Lee Y, Conley M, Weir D . Homocysteine metabolism in pregnancies complicated by neural-tube defects. Lancet. 1995; 345(8943):149-51. DOI: 10.1016/s0140-6736(95)90165-5. View

5.
Gellekink H, Muntjewerff J, Vermeulen S, Hermus A, Blom H, den Heijer M . Catechol-O-methyltransferase genotype is associated with plasma total homocysteine levels and may increase venous thrombosis risk. Thromb Haemost. 2007; 98(6):1226-31. View