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Article

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

American journal of human genetics - 1 Nov 2002

Doolin Marie-Therese, Barbaux Sandrine, McDonnell Maeve, Hoess Katy, Whitehead Alexander S, Mitchell Laura E

Abstract excerpt

There is currently considerable interest in the relationship between variation in genes that are involved in the folate-homocysteine metabolic axis and the risk of spina bifida. The evaluation of this relationship is, however, complicated by the potential involvement of both the maternal and the embryonic genotype in determination of disease risk. The present study was designed to address questions regarding both...

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Source

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Identifiers

PMID: 12375236
DOI: 10.1086/344209
PMCID: PMC385102

Genes

MTR
MTRR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida.PMID 12375236Read ↗

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

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Polymorphisms of the 5,10-methylenetetrahydrofolate and the methionine synthase reductase genes as independent risk factors for 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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An Inframe Trinucleotide Deletion in MTRR Exon 1 is Associated with the Risk of Spina Bifida.Semantic proximity Read ↗

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