SynthesisJournal of human genetics2007
Maternal gene polymorphisms involved in folate metabolism and risk of Down syndrome offspring: a meta-analysis.
Synthesis in Journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 6 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 6 syntheses or guidelines pooled it, 48 citations in OpenAlex.
- Maternal MTHFR polymorphism (677 C-T) and risk of Down's syndrome child: meta-analysis.Journal of genetics · 2016Pooled it
- The MTRR 66A>G polymorphism and maternal risk of birth of a child with Down syndrome in Caucasian women: a case-control study and a meta-analysis.Molecular biology reports · 2014Pooled it
- Maternal methylenetetrahydrofolate reductase C677T polymorphism and down syndrome risk: a meta-analysis from 34 studies.PloS one · 2014Pooled it
- The MTR 2756A>G polymorphism and maternal risk of birth of a child with Down syndrome: a case-control study and a meta-analysis.Molecular biology reports · 2013Pooled it
- Association of methylenetetrahydrofolate reductase gene 677C > T polymorphism and Down syndrome.Molecular biology reports · 2013Pooled it
- The role of MTHFR gene in multiple myeloma.Journal of human genetics · 2008Pooled it
- The Multifactorial Causes of Down Syndrome During Pregnancy: A Narrative Review of Genetic, Environmental, and Maternal Influences.Health science reports · 2025Article
- Association between polymorphisms in folate metabolism genes and maternal risk for Down syndrome: A meta-analysis.Molecular and clinical oncology · 2017Article
- The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects.Frontiers in genetics · 2015Review
- Methylenetetrahydrofolate Reductase A1298C Polymorphism and Breast Cancer Risk: A Meta-analysis of 33 Studies.Annals of medical and health sciences research · 2014Review
- Betaine-homocysteine methyltransferase 742G>A polymorphism and risk of down syndrome offspring in a Brazilian population.Molecular biology reports · 2013Article
- Polymorphisms in folate-metabolizing genes, chromosome damage, and risk of Down syndrome in Italian women: identification of key factors using artificial neural networks.BMC medical genomics · 2010Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Studies investigating the association between gene polymorphisms involved in homocysteine/folate metabolism and Down syndrome (DS) have reported contradictory or inconclusive results. A meta-analysis of 11 case-control studies relating MTHFR C677T, MTHFR A1298C and MTRR A66G gene polymorphisms to the maternal risk of DS was carried out. For MTHFR C677T polymorphism the heterogeneity between studies was significant (P=0.03) and the random effects (RE) pooled odds ratio (OR) was not significant: RE OR=1.18 (0.99-1.40). The recessive model for allele MTHFR 677T showed nonsignificant heterogeneity overall (P=0.21) and the association was not significant: fixed effects (FE) OR=1.27 (0.98-1.64). However, sensitivity analysis changed the pattern of results and the association became marginally significant [FE OR=1.31 (1.01-1.71)]. The dominant model showed no association. Finally, statistically significant associations between the MTHFR A1298C and MTRR A66G gene polymorphisms and the risk of DS were not found. The cumulative meta-analysis of MTHFR C677T showed a trend toward an association as the amount of data increased, and the recursive cumulative meta-analysis indicated that there was insufficient evidence for claiming or denying an association for all gene polymorphisms. In addition, there was no difference between the magnitude of effect observed in large versus small studies. Large and rigorous case-control studies that investigate gene-gene and gene-environment interactions need to be performed before conclusive claims about the genetics of DS can be made.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.