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Article

Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk.

Journal of human genetics - 1 Jan 2006

De Marco Patrizia, Merello Elisa, Calevo Maria Grazia, Mascelli Samantha, Raso Alessandro, Cama Armando, Capra Valeria

Abstract excerpt

Genetic variants of enzymes involved in the folate pathway might be expected to have an impact on neural tube defect (NTD) risk. Given its key role in folate metabolism, the methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) gene could represent an attractive candidate in NTD aetiology. In this study, the impact of the MTHFD1 1958G > A polymorphism on NTD risk in the Italian population was examined both by...

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Source

Identifiers

PMID: 16315005
DOI: 10.1007/s10038-005-0329-6

Genes

MTHFD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk.PMID 16315005Read ↗

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A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group.Semantic proximity Read ↗

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