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Article

Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil.

American journal of medical genetics. Part A - 15 Jun 2005

da Silva Luciana Rodrigues Jacy, Vergani Naja, Galdieri Luciano de Camargo, Ribeiro Porto Marianna Picarelli, Longhitano Silvia Bragagnolo, Brunoni Decio, D'Almeida Vânia, Alvarez Perez Ana Beatriz

Abstract excerpt

Associations between specific alleles of genes encoding enzymes in the methionine/homocysteine pathway and plasma homocysteine levels have been examined in different populations. In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children...

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Share to 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase
Share to Cystathionine beta-Synthase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Down Syndrome

Share to Enzymes

Share to Ferredoxin-NADP Reductase

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Share to Methylenetetrahydrofolate Reductase (NADPH2)

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Source

Identifiers

PMID: 15889417
DOI: 10.1002/ajmg.a.30591

Genes

MTHFR
CBS
MTR
MTRR

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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