Evidence map›Paper›PMID 35468734›Full record

SynthesisBMC pediatrics2022

"Association of MTHFR and MS/MTR gene polymorphisms with congenital heart defects in North Indian population (Jammu and Kashmir): a case-control study encompassing meta-analysis and trial sequential analysis".

Jyotdeep Kour Raina, Rakesh Kumar Panjaliya, Vikas Dogra, Sushil Sharma, Anupriya, Parvinder Kumar

Abstract readMeta-Analysis
In one paragraph

Synthesis in BMC pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–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

7 citing papers in PubMed.

  1. Article
  2. Article
  3. Children (Basel, Switzerland) · 2025
    Review
  4. Factor V Leiden (R506Q), Prothrombin G20210A, and MTHFR C677T Variants and Thrombophilia in Qatar Biobank Participants: A Case Control Study.Pathophysiology : the official journal of the International Society for Pathophysiology · 2024
    Article
  5. Impact ofReports of biochemistry & molecular biology · 2024
    Article
  6. Article
  7. [MaternalZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
    Article
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

6 authors.

Jyotdeep Kour RainaInstitute of Human Genetics, University of Jammu Jammu and Kashmir, 180006, Jammu, India.
Rakesh Kumar PanjaliyaDepartment of Zoology, University of Jammu, Jammu and Kashmir, 180006, Jammu, India. panjaliya82@gmail.com.
Vikas DograDepartment of Zoology Govt. Degree College, Samba, J&K, Jammu, India.
Sushil SharmaDepartment of Neonatology, University Hospital Southampton, Hampshire, UK.
AnupriyaInstitute of Human Genetics, University of Jammu Jammu and Kashmir, 180006, Jammu, India.
Parvinder KumarInstitute of Human Genetics, University of Jammu Jammu and Kashmir, 180006, Jammu, India. parvinderkb2003@gmail.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe risk of Congenital Heart Defects (CHD) is greatly influenced by variants within the genes involved in folate-homocysteine metabolism. Polymorphism in MTHFR (C677T and G1793A) and MS/MTR (A2756G) genes increases the risk of developing CHD risk, but results are controversial. Therefore, we conducted a case-control association pilot study followed by an up-dated meta-analysis with trial sequential analysis (TSA) to obtain more precise estimate of the associations of these two gene variants with the CHD risk.

methodsFor case-control study, we enrolled 50 CHD patients and 100 unrelated healthy controls. Genotyping was done by PCR-RFLP method and meta-analysis was performed by MetaGenyo online Statistical Analysis System software. For meta-analysis total number of individuals was as follows: for MTHFR C677T 3450 CHD patients and 4447 controls whereas for MS A2756G 697 CHD patients and 777 controls.

resultsResults of the original pilot study suggested lack of association for MTHFR C677T and MS A2756G polymorphism with risk of CHD whereas MTHFR G1793A was significantly associated with the disease. On performing meta-analysis, a significant association was observed with MTHFR C677T polymorphism but not with MS A2756G. Trial sequential Analysis also confirmed the sufficient sample size requirement for findings of meta-analysis.

conclusionsThe results of the meta-analysis suggested a significant role of MTHFR in increased risk of CHD.

Indexed as

Genetic Predisposition to DiseaseHeart Defects, Congenital5-Methyltetrahydrofolate-Homocysteine S-MethyltransferaseCase-Control StudiesHumansMethylenetetrahydrofolate Reductase (NADPH2)Pilot ProjectsPolymorphism, GeneticRisk Factors5-Methyltetrahydrofolate-Homocysteine S-MethyltransferaseMethylenetetrahydrofolate Reductase (NADPH2)MTHFR protein, humanMTR protein, humanMet-analysisMTHFRPolymorphismTSA

Identifiers

PMID35468734
PMCPMC9036697

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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.