Evidence map›Paper›PMID 32646478›Full record

ArticleBMC research notes2020

Absence of the c.169+50delTAAACAG mutation of SOD1 gene in a sample of keratoconus patients in Brazilian population.

Alessandro Garcia Lopes, Gildásio Castello de Almeida Júnior, Ronan Marques Teixeira, Luiz Carlos de Mattos, Cinara Cássia Brandão de Mattos, Lilian Castiglioni

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC research notes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-weighted citation impact, top 33% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. The Underlying Relationship between Keratoconus and Down Syndrome.International journal of molecular sciences · 2022
    Review
  3. Review
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 at 3 institutions in 1 country.

Alessandro Garcia LopesBiology Department, Instituto de Biociências, Letras e Ciências Exatas, IBILCE-UNESP, Universidade Estadual Paulista "Júlio de Mesquita Filho,", Rua Cristóvão Colombo, 2265, São José do Rio Preto, São Paulo, 15054-000, Brazil.
Gildásio Castello de Almeida JúniorOphthalmology Outpatient Clinic, Hospital de Base de São José do Rio Preto, Fundação Faculdade Regional de Medicina (HB-FUNFARME), Avenida Brigadeiro Faria Lima, 5544, São José do Rio Preto, São Paulo, 15090-000, Brazil.
Ronan Marques TeixeiraBiology Department, Instituto de Biociências, Letras e Ciências Exatas, IBILCE-UNESP, Universidade Estadual Paulista "Júlio de Mesquita Filho,", Rua Cristóvão Colombo, 2265, São José do Rio Preto, São Paulo, 15054-000, Brazil.
Luiz Carlos de MattosImmunogenetics Laboratory, Molecular Biology Department, Faculdade de Medicina de São José do Rio Preto (FAMERP), Avenida Brigadeiro Faria Lima, 5416, Vila São Pedro, São José do Rio Preto, São Paulo, 15090-000, Brazil.
Cinara Cássia Brandão de MattosImmunogenetics Laboratory, Molecular Biology Department, Faculdade de Medicina de São José do Rio Preto (FAMERP), Avenida Brigadeiro Faria Lima, 5416, Vila São Pedro, São José do Rio Preto, São Paulo, 15090-000, Brazil. cinara.brandao@edu.famerp.br.ORCID http://orcid.org/0000-0002-4836-3113
Lilian CastiglioniBiology Department, Instituto de Biociências, Letras e Ciências Exatas, IBILCE-UNESP, Universidade Estadual Paulista "Júlio de Mesquita Filho,", Rua Cristóvão Colombo, 2265, São José do Rio Preto, São Paulo, 15054-000, Brazil. lilian.castiglioni@famerp.br.
Faculdade de Medicina de São José do Rio Preto · BRHospital de Base · BRUniversidade Estadual Paulista (Unesp) · BR

Funding

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior PhD ScholarshipFundação de Amparo à Pesquisa do Estado de São Paulo 2015/17226-7Fundação de Amparo à Pesquisa do Estado de São Paulo 2017/09540-9
6 · The paper itself

Abstract

objectiveTo determine the presence of the 7-bp deletion c.169+50delTAAACAG in intron 2 of Superoxide Dismutase-1 gene in keratoconic patients from the State of São Paulo, Brazil, which promotes splicing variations, resulting in non-functional Superoxide Dismutase-1 antioxidant proteins, which may damage the corneal structure.

resultsA group of 35 keratoconic patients, from whom 35 peripheral blood samples and 58 samples of corneal fragments were evaluated, and a control group of 89 individuals, from whom 41 blood samples and 149 samples of corneal fragments were collected. After the amplification of DNA fragments by polymerase chain reaction, mutational screening analysis was performed by enzymatic digestion, followed by direct sequencing. The absence of the 7-bp c.169+50delTAAACAG mutation in intron 2 of Superoxide Dismutase-1 gene was detected in the analyzed subjects of the 2 groups, both in the cornea and peripheral blood samples. Then, according to our results, there is no involvement of c.169+50delTAAACAG deletion in the pathogenesis of keratoconus in this population, once it was not detected. But we emphasize that studies involving this deletion must be continued in an attempt to elucidate this issue.

Indexed as

Sequence DeletionAdultBrazilFemaleHumansIntronsKeratoconusMaleMiddle AgedPolymerase Chain ReactionPolymorphism, Restriction Fragment LengthSequence Analysis, DNASuperoxide Dismutase-1Young AdultSOD1 protein, humanSuperoxide Dismutase-1CorneaCorneal DiseasesGeneticKeratoconusPolymorphismSuperoxide Dismutase-1 gene

Identifiers

PMID32646478
PMCPMC7346509
OpenAlexW3041477766

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.