SynthesisPloS one2012
Association of the maternal MTHFR C677T polymorphism with susceptibility to neural tube defects in offsprings: evidence from 25 case-control studies.
Synthesis in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 5 of them syntheses that pooled it.
What it found
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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
40 citing papers in PubMed, 5 syntheses or guidelines pooled it, 102 citations in OpenAlex.
- Pooled it
- Describing the Prevalence of Neural Tube Defects Worldwide: A Systematic Literature Review.PloS one · 2016Pooled it
- "Polymorphisms in folate metabolism genes as maternal risk factor for neural tube defects: an updated meta-analysis".Metabolic brain disease · 2015Pooled it
- Association between MTHFD1 G1958A polymorphism and neural tube defects susceptibility: a meta-analysis.PloS one · 2014Pooled it
- Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls.Circulation. Cardiovascular genetics · 2013Pooled it
- Reassessing Mandatory Folic Acid Fortification for Neural Tube Defect Prevention: Evidence, Uncertainty, and Policy Implications.Nutrients · 2026Review
- Genetic variation in macrophage-restricted FOLR2 is associated with neurodevelopmental and reproductive immune phenotypes.Frontiers in immunology · 2026Article
- Preconceptional and Periconceptional Folic Acid Supplementation in the Visegrad Group Countries for the Prevention of Neural Tube Defects.Nutrients · 2024Review
- Article
- Article
- Susceptibility to hypertension based onFrontiers in cardiovascular medicine · 2023Article
- Super-assembly of integrated gold magnetic assay with loop-mediated isothermal amplification for point-of-care testing.Nano research · 2023Article
- Periconceptional folic acid use prevents both rare and common neural tube defects in China.Birth defects research · 2022Article
- Innovative approach to identify multigenomic and environmental interactions associated with birth defects in family-based hybrid designs.Genetic epidemiology · 2021Article
- Perspectives on urological care in spina bifida patients.Intractable & rare diseases research · 2021Review
- Risk Factors of Anencephaly: A Case-Control Study in Dessie Town, North East Ethiopia.Pediatric health, medicine and therapeutics · 2021Article
- Systemic risk factors correlated with hyperhomocysteinemia for specificAnnals of translational medicine · 2020Article
- Perspective: Advancing Understanding of Population Nutrient-Health Relations via Metabolomics and Precision Phenotypes.Advances in nutrition (Bethesda, Md.) · 2019Article
- Ethnogeographic prevalence and implications of the 677C>T and 1298A>CBiomarkers in medicine · 2019Article
- Nuclear Folate Metabolism.Annual review of nutrition · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMethylenetetrahydrofolate reductase (MTHFR) is a critical enzyme in folate metabolism and is involved in DNA methylation, DNA synthesis, and DNA repair. In addition, it is a possible risk factor in neural tube defects (NTDs). The association of the C677T polymorphism in the MTHFR gene and NTD susceptibility has been widely demonstrated, but the results remain inconclusive. In this study, we performed a meta-analysis with 2429 cases and 3570 controls to investigate the effect of the MTHFR C677T polymorphism on NTDs.
methodsAn electronic search of PubMed and Embase database for papers on the MTHFR C677T polymorphism and NTD risk was performed. All data were analysed with STATA (version 11). Odds ratios (ORs) with 95% confidence intervals (CIs) were estimated to assess the association. Sensitivity analysis, test of heterogeneity, cumulative meta-analysis, and assessment of bias were performed in our meta-analysis.
resultsA significant association between the MTHFR C677T polymorphism and NTD susceptibility was revealed in our meta-analysis ( TT versus CC: OR= 2.022, 95% CI: 1.508, 2.712; CT+TT versus CC: OR = 1.303, 95% CI: 1.089, 1.558; TT versus CC+CT: OR= 1.716, 95% CI: 1.448, 2.033; 2TT+CT versus 2CC+CT: OR= 1.330, 95% CI: 1.160, 1.525). Moreover, an increased NTD risk was found after stratification of the MTHFR C677T variant data by ethnicity and source of controls.
conclusionThe results suggested the maternal MTHFR C677T polymorphism is a genetic risk factor for NTDs. Further functional studies to investigate folate-related gene polymorphisms, periconceptional multivitamin supplements, complex interactions, and the development of NTDs are warranted.
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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.