Evidence map›Paper›PMID 22874010›Full record

ArticleBMC pulmonary medicine2012

The ACE gene D/I polymorphism as a modulator of severity of cystic fibrosis.

Fernando A L Marson, Carmen S Bertuzzo, Taís D R Hortencio, José D Ribeiro, Luciana C Bonadia, Antônio F Ribeiro

Open access · goldAbstract read
In one paragraph

Article in BMC pulmonary medicine, 2012. 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
3.2field-weighted citation impact, top 8% 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

20 citing papers in PubMed, 3 syntheses or guidelines pooled it, 36 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Role of theInternational journal of molecular sciences · 2025
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  10. SARS-CoV-2 (COVID-19) and cystic fibrosis.American journal of physiology. Lung cellular and molecular physiology · 2020
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  12. Association of growth and nutritional parameters with pulmonary function in cystic fibrosis: a literature review.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2016
    Review
  13. Article
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  16. Article
  17. TNF-alpha polymorphisms as a potential modifier gene in the cystic fibrosis.International journal of molecular epidemiology and genetics · 2014
    Article
  18. Article
  19. Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosis.Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia
    Article
  20. Screening for F508del as a first step in the molecular diagnosis of cystic fibrosis.Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia
    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 at 1 institution in 1 country.

Fernando A L MarsonDepartment of Pediatrics, School of Medical Sciences, University of Campinas, Campinas, SP, Brazil. fernandolimamarson@hotmail.com
Carmen S Bertuzzo
Taís D R Hortencio
José D Ribeiro
Luciana C Bonadia
Antônio F Ribeiro
Universidade Estadual de Campinas (UNICAMP) · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCystic Fibrosis (CF) is a monogenic disease with complex expression because of the action of genetic and environmental factors. We investigated whether the ACE gene D/I polymorphism is associated with severity of CF.

methodsA cross-sectional study was performed, from 2009 to 2011, at University of Campinas - UNICAMP. We analyzed 180 patients for the most frequent mutations in the CFTR gene, presence of the ACE gene D/I polymorphism and clinical characteristics of CF.

resultsThere was an association of the D/D genotype with early initiation of clinical manifestations (OR: 1.519, CI: 1.074 to 2.146), bacterium Burkholderia cepacia colonization (OR: 3.309, CI: 1.476 to 6.256) and Bhalla score (BS) (p = 0.015). The association was observed in subgroups of patients which were defined by their CFTR mutation genotype (all patients; subgroup I: no mutation detected; subgroup II: one CFTR allele identified to mutation class I, II or III; subgroup III: both CFTR alleles identified to mutation class I, II and/or III).

conclusionAn association between the D allele in the ACE gene and the severity of CF was found in our study.

Indexed as

Polymorphism, GeneticAdolescentAmplified Fragment Length Polymorphism AnalysisChildChild, PreschoolCross-Sectional StudiesCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorFemaleGenetic MarkersGenotypeGenotyping TechniquesHumansInfantLinear ModelsLogistic ModelsACE protein, humanCFTR protein, humanCystic Fibrosis Transmembrane Conductance RegulatorGenetic MarkersPeptidyl-Dipeptidase A

Identifiers

PMID22874010
PMCPMC3460779
OpenAlexW2024614985

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.