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Article

Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome.

The American journal of clinical nutrition - 1 Oct 1999

James S J, Pogribna M, Pogribny I P, Melnyk S, Hine R J, Gibson J B, Yi P, Tafoya D L, Swenson D H, Wilson V L, Gaylor D W

Abstract excerpt

BACKGROUND: Down syndrome, or trisomy 21, is a complex genetic disease resulting from the presence of 3 copies of chromosome 21. The origin of the extra chromosome is maternal in 95% of cases and is due to the failure of normal chromosomal segregation during meiosis. Although advanced maternal age is a major risk factor for trisomy 21, most children with Down syndrome are born to mothers <30 y of age. OBJECTIVE:...

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Identifiers

PMID: 10500018
DOI: 10.1093/ajcn/70.4.495

Genes

MTHFR

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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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Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome.PMID 10500018Read ↗

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The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defectsSemantic proximity Read ↗

Maternal methylenetetrahydrofolate reductase C677T polymorphism and down syndrome risk: a meta-analysis from 34 studies.Semantic proximity Read ↗

[Mutations in the methylene-tetrahydrofolate reductase gene and Down syndrome].Semantic proximity Read ↗

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

Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome in China.Semantic proximity Read ↗

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The biochemical structure and function of methylenetetrahydrofolate reductase provide the rationale to interpret the epidemiological results on the risk for infants with Down syndrome.Semantic proximity Read ↗

Maternal risk for Down syndrome is modulated by genes involved in folate metabolism.Semantic proximity Read ↗

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