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Type: Artigo de periódico
Title: Association Of Mbl2, Tgf-beta1 And Cd14 Gene Polymorphisms With Lung Disease Severity In Cystic Fibrosis.
Author: Faria, Elisangela Jacinto de
Faria, Isabel Cristina Jacinto de
Ribeiro, José Dirceu
Ribeiro, Antônio Fernando
Hessel, Gabriel
Bertuzzo, Carmen Sílvia
Abstract: To identify associations between genetic polymorphisms (in the MBL2, TGF-beta1 and CD14 genes) and the severity of the lung disease in patients with cystic fibrosis (CF), as well as between the presence of DeltaF508 alleles and lung disease severity in such patients. This was a cross-sectional cohort study, based on clinical and laboratory data, involving 105 patients with CF treated at a university hospital in the 2005-2006 period. We included 202 healthy blood donors as controls for the determination of TGF-beta1 and CD14 gene polymorphisms. Polymorphisms in the MBL2 and TGF-beta1 genes at codon 10, position +869, were genotyped using the allele-specific PCR technique. The C-159T polymorphism in the CD14 gene was genotyped using PCR and enzymatic digestion. Of the 105 CF patients evaluated, 67 presented with severe lung disease according to the Shwachman score. The MBL2 gene polymorphisms were not associated with disease severity in the CF patients. Analysis of the T869C polymorphism in the TGF-beta1 gene showed an association only between TC heterozygotes and mild pulmonary disease. Although patients presenting the TT genotype of the C159T polymorphism in the CD14 gene predominated, there was no significant difference regarding lung disease severity. There was an association between the TC genotype of the T869C polymorphism (TGF-beta1) and mild pulmonary disease in CF patients. In the CD14 gene, the TT genotype seems to be a risk factor for pulmonary disease but is not a modulator of severity. We found no association between being a DeltaF508 homozygote and presenting severe lung disease.
Subject: Adult
Antigens, Cd14
Case-control Studies
Cross-sectional Studies
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Lung Diseases
Mannose-binding Lectin
Polymerase Chain Reaction
Polymorphism, Genetic
Severity Of Illness Index
Transforming Growth Factor Beta1
Citation: Jornal Brasileiro De Pneumologia : Publicaça̋o Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia. v. 35, n. 4, p. 334-42, 2009-Apr.
Rights: aberto
Identifier DOI: 
Date Issue: 2009
Appears in Collections:Unicamp - Artigos e Outros Documentos

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