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Article

MTRR and MTHFR polymorphism: link to Down syndrome?

American journal of medical genetics - 15 Jan 2002

O'Leary Valerie B, Parle-McDermott Anne, Molloy Anne M, Kirke Peadar N, Johnson Zachary, Conley Mary, Scott John M, Mills James L

Abstract excerpt

Polymorphisms in genes encoding the folate metabolizing enzymes methylenetetrahydrofolate reductase (MTHFR C677T) and methionine synthase reductase (MTRR A66G) have been linked to the etiology of Down syndrome. We examined the prevalence of these variant genotypes in mothers who had given birth to a child with Down syndrome (n = 48) and in control mothers (n = 192), and investigated the biochemical factors...

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Source

Identifiers

PMID: 11807890
DOI: 10.1002/ajmg.10121

Genes

MTRR
MTHFR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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