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Article

Investigation of CBS, MTR, RFC-1 and TC polymorphisms as maternal risk factors for Down syndrome.

Disease markers - 1 Jan 2009

Fintelman-Rodrigues N, Corrêa J C, Santos J M, Pimentel M M G, Santos-Rebouças C B

Abstract excerpt

Recent evidence shows that almost 92% of the DS children are born from young mothers, suggesting that other risk factors than advanced maternal age must be involved. In this context, some studies demonstrated a possible link between DS and maternal polymorphisms in genes involved in folate metabo...

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Share to 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19729796
DOI: 10.3233/DMA-2009-0626
PMCID: PMC3833707

Genes

MTHFR
MTR
CBS
MTRR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19729796-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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Research trail→

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Investigation of CBS, MTR, RFC-1 and TC polymorphisms as maternal risk factors for Down syndrome.PMID 19729796Read ↗

Maternal gene polymorphisms involved in folate metabolism as risk factors for Down syndrome offspring in Southern Brazil.Semantic proximity Read ↗

A80G polymorphism of reduced folate carrier 1 (RFC1) and C776G polymorphism of transcobalamin 2 (TC2) genes in Down's syndrome etiology.Semantic proximity Read ↗

Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: maternal risk factors for Down syndrome in Brazil.Semantic proximity Read ↗

Maternal gene polymorphisms involved in folate metabolism and the risk of having a Down syndrome offspring: a meta-analysis.Semantic proximity Read ↗

Screening of six polymorphisms related with folate metabolism in parents of individuals with Down syndrome.Semantic proximity Read ↗

Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women.Semantic proximity Read ↗

Methylenetetrahydrofolate dehydrogenase (MTHFD) enzyme polymorphism as a maternal risk factor for trisomy 21: a clinical study.Semantic proximity Read ↗

Genetic polymorphisms involved in folate metabolism and maternal risk for down syndrome: a meta-analysis.Semantic proximity Read ↗

MTHFR gene polymorphism and associated nutritional deficiency in the etiology and pathogenesis of Down syndromeSemantic proximity Read ↗

MTHFR genetic polymorphism as a risk factor in Egyptian mothers with Down syndrome children.Semantic proximity Read ↗

The reduced folate carrier (RFC-1) 80A>G polymorphism and maternal risk of having a child with Down syndrome: a meta-analysis.Semantic proximity Read ↗

No association between common polymorphisms in genes of folate and homocysteine metabolism and the risk of Down's syndrome among French mothers.Semantic proximity Read ↗

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