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

• Published in: BMC pulmonary medicine Vol. 12; no. 1; p. 41
• Main Authors: Marson, Fernando A L, Bertuzzo, Carmen S, Hortencio, Taís D R, Ribeiro, José D, Bonadia, Luciana C, Ribeiro, Antônio F
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 08-08-2012; BioMed Central; BMC
• Subjects: Adolescent; Amplified Fragment Length Polymorphism Analysis; Analysis; Angiotensin; Angiotensin-converting Enzyme; Child; Child, Preschool; Cross-Sectional Studies; Cystic fibrosis; Cystic Fibrosis - genetics; Cystic Fibrosis - physiopathology; Cystic Fibrosis Transmembrane Conductance Regulator - genetics; Deoxyribonucleic acid; DNA; Enzymes; Female; Gene expression; Genes; Genetic aspects; Genetic Markers; Genetic modulation; Genetic polymorphisms; Genotype; Genotype & phenotype; Genotyping Techniques; Humans; Infant; Linear Models; Logistic Models; Lung diseases; Male; Mutation; Peptidyl-Dipeptidase A - genetics; Phenotype; Polymorphism, Genetic; Pulmonology; Severity of Illness Index; Statistical analysis; Studies; Thermal cycling; Variability; United States > US
• ISSN: 1471-2466; 1471-2466
• DOI: 10.1186/1471-2466-12-41

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.
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.
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).
An association between the D allele in the ACE gene and the severity of CF was found in our study.