• Elisangela Jacinto de Faria, Isabel Cristina Jacinto de Faria, José Dirceu Ribeiro, Antônio Fernando Ribeiro, Gabriel Hessel, and Carmen Sílvia Bertuzzo.
• Department of Medical Genetics, Universidade Estadual de Campinas - Unicamp, State University at Campinas School of Medical Sciences, Campinas, Brazil. elliiss@yahoo.com.br
• J Bras Pneumol. 2009 Apr 1;35(4):334-42.

ObjectiveTo 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.MethodsThis 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.ResultsOf 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.ConclusionsThere 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.

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