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Article

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

Molecular genetics and metabolism - 1 Aug 1999

Wilson A, Platt R, Wu Q, Leclerc D, Christensen B, Yang H, Gravel R A, Rozen R

Abstract excerpt

Impairment of folate and cobalamin (vitamin B(12)) metabolism has been observed in families with neural tube defects (NTDs). Genetic variants of enzymes in the homocysteine remethylation pathway might act as predisposing factors contributing to NTD risk. The first polymorphism linked to increased NTD risk was the 677C-->T mutation in methylenetetrahydrofolate reductase (MTHFR). We now report a polymorphism in...

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Share to 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase
Share to Deoxyribonucleases, Type II Site-Specific

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10444342
DOI: 10.1006/mgme.1999.2879

Genes

MTHFR
MTRR

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida.PMID 10444342Read ↗

The methionine synthase reductase 66A>G polymorphism is a maternal risk factor for spina bifida.Semantic proximity Read ↗

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Common variant in betaine-homocysteine methyltransferase (BHMT) and risk for spina bifida.Semantic proximity Read ↗

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

Transcobalamin and methionine synthase reductase mutated polymorphisms aggravate the risk of neural tube defects in humans.Semantic proximity Read ↗

Elevated plasma total homocysteine and C677T mutation of the methylenetetrahydrofolate reductase gene in patients with spina bifida.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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The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy.Semantic proximity Read ↗

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Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida.Semantic proximity Read ↗

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