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

dc.creatorMarson, FAL
dc.creatorBertuzzo, CS
dc.creatorHortencio, TDR
dc.creatorRibeiro, JD
dc.creatorBonadia, LC
dc.creatorRibeiro, AF
dc.date2012
dc.dateAUG 8
dc.date2014-08-01T18:25:12Z
dc.date2015-11-26T17:04:26Z
dc.date2014-08-01T18:25:12Z
dc.date2015-11-26T17:04:26Z
dc.date.accessioned2018-03-28T23:52:42Z
dc.date.available2018-03-28T23:52:42Z
dc.identifierBmc Pulmonary Medicine. Biomed Central Ltd, v. 12, 2012.
dc.identifier1471-2466
dc.identifierWOS:000313273400001
dc.identifier10.1186/1471-2466-12-41
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/78687
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/78687
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1279348
dc.descriptionBackground: Cystic 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. Methods: A 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. Results: There 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). Conclusion: An association between the D allele in the ACE gene and the severity of CF was found in our study.
dc.description12
dc.languageen
dc.publisherBiomed Central Ltd
dc.publisherLondon
dc.publisherInglaterra
dc.relationBmc Pulmonary Medicine
dc.relationBMC Pulm. Med.
dc.rightsaberto
dc.sourceWeb of Science
dc.subjectGenotype
dc.subjectPhenotype
dc.subjectVariability
dc.subjectGenetic modulation
dc.subjectAngiotensin-converting Enzyme
dc.subjectI-converting-enzyme
dc.subjectModifier Genes
dc.subjectLung-disease
dc.titleThe ACE gene D/I polymorphism as a modulator of severity of cystic fibrosis
dc.typeArtículos de revistas


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