title: The ACE gene D/I polymorphism as a modulator of severity of cystic fibrosis.
abstract: 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).
  
  
  CONCLUSIONS
  An association between the D allele in the ACE gene and the severity of CF was found in our study.
authors.affiliation: Department of Pediatrics, School of Medical Sciences, University of Campinas, Campinas, SP, Brazil. fernandolimamarson@hotmail.com
authors.forename: Fernando A L
authors.initials: FA
authors.lastname: Marson
authors.forename: Carmen S
authors.initials: CS
authors.lastname: Bertuzzo
authors.forename: Taís D R
authors.initials: TD
authors.lastname: Hortencio
authors.forename: José D
authors.initials: JD
authors.lastname: Ribeiro
authors.forename: Luciana C
authors.initials: LC
authors.lastname: Bonadia
authors.forename: Antônio F
authors.initials: AF
authors.lastname: Ribeiro
mesh_terms: D000293:Adolescent; D054458:Amplified Fragment Length Polymorphism Analysis; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D003550:Cystic Fibrosis / Q000235:genetics* / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D005838:Genotype; D060005:Genotyping Techniques; D006801:Humans; D007223:Infant; D016014:Linear Models; D016015:Logistic Models; D008297:Male; D009154:Mutation; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D011110:Polymorphism, Genetic; D012720:Severity of Illness Index
chemical_list: C505032:CFTR protein, human; D005819:Genetic Markers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A