Artículos de revistas
The ACE gene D/I polymorphism as a modulator of severity of cystic fibrosis
Registro en:
Bmc Pulmonary Medicine. Biomed Central Ltd, v. 12, 2012.
1471-2466
WOS:000313273400001
10.1186/1471-2466-12-41
Autor
Marson, FAL
Bertuzzo, CS
Hortencio, TDR
Ribeiro, JD
Bonadia, LC
Ribeiro, AF
Institución
Resumen
Background: 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. 12