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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. © 2012 Marson et al.; licensee BioMed Central Ltd.
Marson, F. A. L., Bertuzzo, C. S., Hortencio, T. D. R., Ribeiro, J. D., Bonadia, L. C., & Ribeiro, A. F. (2012). The ACE gene D/I polymorphism as a modulator of severity of cystic fibrosis. BMC Pulmonary Medicine, 12. https://doi.org/10.1186/1471-2466-12-41