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Evaluation of infant methylenetetrahydrofolate reductase genotype, maternal vitamin use, and risk of high versus low level spina bifida defects.

Birth defects research. Part A, Clinical and molecular teratology - 1 Mar 2003

Volcik Kelly A, Shaw Gary M, Lammer Edward J, Zhu Huiping, Finnell Richard H

Abstract excerpt

BACKGROUND: Several studies have suggested that homozygosity for the C677T 5,10-methylenetetrahydrofolate reductase (MTHFR) variant is a potential risk factor for neural tube defects (NTDs), as individuals homozygous for the C677T allele have slightly elevated homocysteine concentrations under conditions of low folic acid intake. It has been hypothesized that maternal folic acid supplementation prevents NTDs by...

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Identifiers

PMID: 12797455
DOI: 10.1002/bdra.10008

Genes

MTHFR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Evaluation of infant methylenetetrahydrofolate reductase genotype, maternal vitamin use, and risk of high versus low level spina bifida defects.PMID 12797455Read ↗

Maternal vitamin use, genetic variation of infant methylenetetrahydrofolate reductase, and risk for spina bifida.Semantic proximity Read ↗

Altered folate and vitamin B12 metabolism in families with spina bifida offspringSemantic proximity Read ↗

Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects.Semantic proximity Read ↗

5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review.Semantic proximity Read ↗

A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida.Semantic proximity Read ↗

Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects.Semantic proximity Read ↗

Altered folate metabolism and disposition in mothers affected by a spina bifida pregnancy: influence of 677c --> t methylenetetrahydrofolate reductase and 2756a --> g methionine synthase genotypes.Semantic proximity Read ↗

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