SynthesisPloS one2013
Genetic variants in the folate pathway and the risk of neural tube defects: a meta-analysis of the published literature.
Synthesis in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 8 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.
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Who cites it
42 citing papers in PubMed, 8 syntheses or guidelines pooled it, 96 citations in OpenAlex.
- SNPs in folate pathway are associated with the risk of nonsyndromic cleft lip with or without cleft palate, a meta-analysis.Bioscience reports · 2020Pooled it
- Pooled it
- Variants in MTHFR gene and neural tube defects susceptibility in China.Metabolic brain disease · 2015Pooled it
- "Polymorphisms in folate metabolism genes as maternal risk factor for neural tube defects: an updated meta-analysis".Metabolic brain disease · 2015Pooled it
- Maternal methylenetetrahydrofolate reductase C677T polymorphism and down syndrome risk: a meta-analysis from 34 studies.PloS one · 2014Pooled it
- Association between MTHFD1 G1958A polymorphism and neural tube defects susceptibility: a meta-analysis.PloS one · 2014Pooled it
- Genetic variant in MTRR, but not MTR, is associated with risk of congenital heart disease: an integrated meta-analysis.PloS one · 2014Pooled it
- Association of methylenetetrahydrofolate dehydrogenase 1 polymorphisms with cancer: a meta-analysis.PloS one · 2013Pooled it
- Defining the plasma folate concentration associated with the red blood cell folate concentration threshold for optimal neural tube defects prevention: a population-based, randomized trial of folic acid supplementation.The American journal of clinical nutrition · 2019Trial
- A Study of Single Nucleotide Polymorphisms of the SLC19A1/RFC1 Gene in Subjects with Autism Spectrum Disorder.International journal of molecular sciences · 2016Trial
- Assessing molecular gene by treatment interactions using a population of neural progenitors exposed to valproic acid and lithium.Molecular psychiatry · 2026Article
- MaternalGenes · 2026Article
- Article
- Reassessment ofMaternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2025Article
- Dietary folic acid intake, 13 genetic variants and other factors with red blood cell folate concentration in pregnancy-preparing population.European journal of nutrition · 2024Article
- Metabolic Analysis of Methylenetetrahydrofolate Reductase Single Nucleotide Polymorphisms (MTHFR 677C<T and MTHFR 1298A<C), Serum Folate and Vitamin B12 in Neural Tube Defects.Indian journal of clinical biochemistry : IJCB · 2023Article
- Gene-environment interactions underlying the etiology of neural tube defects.Current topics in developmental biology · 2023Article
- Reduced Steroid Synthesis in the Follicular Fluid of MTHFR 677TT Mutation Carriers: Effects of Increased Folic Acid Administration.Geburtshilfe und Frauenheilkunde · 2022Article
- Periconceptional folic acid use prevents both rare and common neural tube defects in China.Birth defects research · 2022Article
- Folate-deficiency induced acyl-CoA synthetase short-chain family member 2 increases lysine crotonylome involved in neural tube defects.Frontiers in molecular neuroscience · 2022Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNeural Tube Defects (NTDs) are among the most prevalent and most severe congenital malformations worldwide. Polymorphisms in key genes involving the folate pathway have been reported to be associated with the risk of NTDs. However, the results from these published studies are conflicting. We surveyed the literature (1996-2011) and performed a comprehensive meta-analysis to provide empirical evidence on the association. METHODS AND
findingsWe investigated the effects of 5 genetic variants from 47 study populations, for a total of 85 case-control comparisons MTHFR C677T (42 studies; 4374 cases, 7232 controls), MTHFR A1298C (22 studies; 2602 cases, 4070 controls), MTR A2756G (9 studies; 843 cases, 1006 controls), MTRR A66G (8 studies; 703 cases, 1572 controls), and RFC-1 A80G (4 studies; 1107 cases, 1585 controls). We found a convincing evidence of dominant effects of MTHFR C677T (OR 1.23; 95%CI 1.07-1.42) and suggestive evidence of RFC-1 A80G (OR 1.55; 95%CI 1.24-1.92). However, we found no significant effects of MTHFR A1298C, MTR A2756G, MTRR A66G in risk of NTDs in dominant, recessive or in allelic models.
conclusionsOur meta-analysis strongly suggested a significant association of the variant MTHFR C677T and a suggestive association of RFC-1 A80G with increased risk of NTDs. However, other variants involved in folate pathway do not demonstrate any evidence for a significant marginal association on susceptibility to NTDs.
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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.