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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 metabolism. These polymorphisms, as well as low intake of folate could generate genomic instability, DNA hypomethylation and...

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 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 ↗

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

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