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Article

A 19-base pair deletion polymorphism in dihydrofolate reductase is associated with increased unmetabolized folic acid in plasma and decreased red blood cell folate.

The Journal of nutrition - 1 Dec 2008

Kalmbach Renee D, Choumenkovitch Silvina F, Troen Aron P, Jacques Paul F, D'Agostino Ralph, Selhub Jacob

Abstract excerpt

Dihydrofolate reductase (DHFR) catalyzes the reduction of folic acid to tetrahydrofolate (THF). A 19-bp noncoding deletion allele maps to intron 1, beginning 60 bases from the splice donor site, and has been implicated in neural tube defects and cancer, presumably by influencing folate metabolism...

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Source

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Identifiers

PMID: 19022952
DOI: 10.3945/jn.108.096404
PMCID: PMC2855991

Genes

DHFR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19022952-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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