Evidence map›Paper›PMID 25265565›Full record

SynthesisPloS one2014

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

Vandana Rai, Upendra Yadav, Pradeep Kumar, Sushil Kumar Yadav, Om Prakesh Mishra

Abstract readMeta-Analysis
In one paragraph

Synthesis in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 3 pooled it
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

20 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
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  4. Review
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  8. Turkish journal of biology = Turk biyoloji dergisi · 2022
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  9. Review
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  11. Methylenetetrahydrofolate reductase (AIMS neuroscience · 2021
    Article
  12. Article
  13. Distribution ofIndian journal of clinical biochemistry : IJCB · 2017
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Vandana RaiHuman Molecular Genetics Laboratory, Department of Biotechnology, VBS Purvanchal University, Jaunpur, India.
Upendra YadavHuman Molecular Genetics Laboratory, Department of Biotechnology, VBS Purvanchal University, Jaunpur, India.
Pradeep KumarHuman Molecular Genetics Laboratory, Department of Biotechnology, VBS Purvanchal University, Jaunpur, India.
Sushil Kumar YadavHuman Molecular Genetics Laboratory, Department of Biotechnology, VBS Purvanchal University, Jaunpur, India.
Om Prakesh MishraDepartment of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMethylenetetrahydrofolate reductase (MTHFR) is a key enzyme of folate metabolic pathway which catalyzes the irreversible conversion of 5, 10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. 5-methyltetrahydrofolate donates methyl group for the methylation of homocysteine to methionine. Several studies have investigated maternal MTHFR C677T polymorphism as a risk factor for DS, but the results were controversial and inconclusive. To come into a conclusive estimate, authors performed a meta-analysis.

aimA meta-analysis of published case control studies was performed to investigate the association between maternal MTHFR C677T polymorphism and Down syndrome.

methodsPubMed, Google Scholar, Elsevier, Springer Link databases were searched to select the eligible case control studies using appropriate keywords. The pooled odds ratio (OR) with 95%confidence interval were calculated for risk assessment.

resultsThirty four studies with 3,098 DS case mothers and 4,852 control mothers were included in the present meta-analysis. The pooled OR was estimated under five genetic models and significant association was found between maternal MTHFR 677C>T polymorphism and Down syndrome under four genetic models except recessive model (for T vs. C, OR = 1.26, 95% CI = 1.09-1.46, p = 0.001; for TT vs. CC, OR = 1.49, 95% CI = 1.13-1.97, p = 0.008; for CT vs. CC, OR = 1.29, 95% CI = 1.10-1.51, p = 0.001; for TT+CT vs. CC, OR = 1.35, 95% CI = 1.13-1.60, p = 0.0008; for TT vs. CT+CC, OR = 0.76, 95% CI = 0.60-0.94, p = 0.01).

conclusionThe results of the present meta-analysis support that maternal MTHFR C677T polymorphism is a risk factor for DS- affected pregnancy.

Indexed as

Down SyndromeFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansMethylenetetrahydrofolate Reductase (NADPH2)Polymorphism, Single NucleotidePregnancyRiskRisk FactorsMethylenetetrahydrofolate Reductase (NADPH2)

Identifiers

PMID25265565
PMCPMC4180743

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Registered trials

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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.