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Article

Evaluation of genetic variants in the reduced folate carrier and in glutamate carboxypeptidase II for spina bifida risk.

Molecular genetics and metabolism - 1 Jul 2003

Morin Isabelle, Devlin Angela M, Leclerc Daniel, Sabbaghian Nelly, Halsted Charles H, Finnell Richard, Rozen Rima

Abstract excerpt

Genetic variants in folate metabolism have been reported to increase risk for neural tube defects (NTD). The first such sequence change was the 677C-->T substitution in methylenetetrahydrofolate reductase (MTHFR), but additional sequence changes have been identified in enzymes or transporters for folates. Two recently identified variants are the 1561C-->T (H475Y) mutation in glutamate carboxypeptidase II (GCPII)...

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Identifiers

PMID: 12855225
DOI: 10.1016/s1096-7192(03)00086-6

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.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Evaluation of genetic variants in the reduced folate carrier and in glutamate carboxypeptidase II for spina bifida risk.PMID 12855225Read ↗

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The H475Y Polymorphism in the Glutamate Carboxypeptidase II Gene Increases Plasma Folate without Affecting the Risk for Neural Tube Defects in HumansSemantic proximity Read ↗

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Reduced folate carrier polymorphism (80A-->G) and neural tube defects.Semantic proximity Read ↗

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