Evidence map›Paper›PMID 35060496›Full record

ArticleMedicine2022

Association between MTHFR C677T and A1298C gene polymorphisms and maternal risk for Down syndrome: A protocol for systematic review and/or meta-analysis.

Carla Talita Azevedo Ginani, Jefferson Romáryo Duarte da Luz, Saulo Victor E Silva, Fabio Coppedè, Maria das Graças Almeida

Open access · greenAbstract read
In one paragraph

Article in Medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.2field-weighted citation impact, top 53% of its field
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

0 citing papers in PubMed, 1 citations in OpenAlex.

No citing paper in PubMed yet.

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 at 2 institutions in 2 countries.

Carla Talita Azevedo GinaniPost-graduation Program in Health Sciences, Federal University of Rio Grande do Norte, Health Sciences Center, Natal, Rio Grande do Norte, Brazil.
Jefferson Romáryo Duarte da LuzPost-graduation Program in Health Sciences, Federal University of Rio Grande do Norte, Health Sciences Center, Natal, Rio Grande do Norte, Brazil.
Saulo Victor E SilvaMultidisciplinary Research Laboratory, DACT, Health Sciences Center, Federal University of Rio Grande do Norte, Natal, Brazil.
Fabio CoppedèDepartment of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, Italy.
Maria das Graças AlmeidaPost-graduation Program in Health Sciences, Federal University of Rio Grande do Norte, Health Sciences Center, Natal, Rio Grande do Norte, Brazil.ORCID 0000-0002-5587-0922
Universidade Federal do Rio Grande do Norte · BRUniversity of Pisa · IT

Funding

Conselho Nacional de Desenvolvimento Científico e Tecnológico 169246/2018-3Coordenação de Aperfeiçoamento de Pessoal de Nível Superior 001
6 · The paper itself

Abstract

backgroundDown syndrome (DS) is one of the most common chromosomal abnormalities among live-born babies and one of the best-known intellectual disability disorders in humans. Errors leading to trisomy 21 are primarily arising from defects in chromosomal segregation during maternal meiosis (about 88% of cases), and the focus of many investigations has been to identify maternal risk factors favoring chromosome 21 malsegregation during oogenesis. Maternal polymorphisms of genes required for folate metabolism are the most investigated risk factors for the birth of children with DS. Through this review, we sought to investigate the association of the polymorphisms "C677T" and "A1298C" of the MTHFR gene with maternal risk for DS.

methodsWe will use the databases PubMed, Embase, Scopus and Web of Science to search for case-control studies published from 1999 up to September 2021 without language restriction. Results will be presented as relative risks and 95% confidence intervals for dichotomous outcomes and mean differences, or standardized mean differences along with 95% confidence intervals, for continuous outcomes. The all data synthesis will be analyzed on the Review Manager 5.2 version software.

resultsThis study will be able to clarify all the doubts we seek and that it will be able to provide accurate data that will be able to describe how these polymorphisms can act to increase the predisposition for the birth of children with DS in different populations and under different dietary conditions.

conclusionsThis study will clarify the relationship between C677T and A1298C polymorphisms MTHFR gene with increased the maternal risk for Down syndrome. REGISTRATION: This systematic review and meta-analysis protocol has been registered on the Prospective Registry of International Systematic Review and Meta-analyses: CRD42021269338.

Indexed as

Polymorphism, GeneticChildDown SyndromeGenetic Predisposition to DiseaseGenotypeHumansMeta-Analysis as TopicMethylenetetrahydrofolate Reductase (NADPH2)Polymorphism, Single NucleotideRisk FactorsSystematic Reviews as TopicMethylenetetrahydrofolate Reductase (NADPH2)MTHFR protein, human

Identifiers

PMID35060496
PMCPMC8772651
OpenAlexW4205824948

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.