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Logo of bmcpmBioMed Centralsearchsubmit a manuscriptregisterthis articleBMC Pulmonary Medicine
BMC Pulm Med. 2012; 12: 41.
Published online Aug 8, 2012. doi:  10.1186/1471-2466-12-41
PMCID: PMC3460779
The ACE gene D/I polymorphism as a modulator of severity of cystic fibrosis
Fernando A L Marson,corresponding author1 Carmen S Bertuzzo,2 Taís D R Hortencio,1 José D Ribeiro,1 Luciana C Bonadia,2 and Antônio F Ribeiro1
1Department of Pediatrics, School of Medical Sciences, University of Campinas, P.O. Box: 6111, Campinas, SP, 13081-970, Brazil
2Department of Genetics, Faculty of Medical Sciences, University of Campinas, P.O. Box: 6111, Campinas, SP, 13081-970, Brazil
corresponding authorCorresponding author.
Fernando A L Marson: fernandolimamarson/at/; Carmen S Bertuzzo: bertuzzo/at/; Taís D R Hortencio: taisdaiene/at/; José D Ribeiro: jdirceuribeiro/at/; Luciana C Bonadia: luciana.bonadia/at/; Antônio F Ribeiro: anferi/at/
Received February 11, 2012; Accepted July 30, 2012.
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.
Keywords: Genotype, Phenotype, Variability, Genetic modulation, Angiotensin-converting Enzyme
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