Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations?

Clin Genet. 2004 Jun;65(6):490-5. doi: 10.1111/j.0009-9163.2004.00265.x.


While all patients with cystic fibrosis (CF) have mutations in both CFTR alleles, often only one CFTR change is detected in patients with other lung disorders. The aim of this study was to investigate whether heterozygosity for CFTR mutations could be a determinant risk factor in the development of bronchiectasis in adult patients. We have performed the CFTR gene analysis in a cohort of 55 bronchiectasis adult patients with unknown etiology. The 5T variant (TG)m and the M470V polymorphisms were also analyzed. A general population in which the same molecular analysis was previously performed was used as the control group. The mutational spectrum of patients was also compared with that found in our CF population. CFTR mutations/variants were found in 20 patients (36%), 14 with only one mutant gene (25%). All six patients colonized by Staphylococcus aureus presented with at least one CFTR change (p = 0.001). No statistical significance was observed between patients with and without mutations for other clinical features. The 5T variant was found in four patients. Additionally, 90% of patients with mutations had the more functional M470 allele (p < 0.001). These results suggest the involvement of the CFTR gene in bronchiectasis of unknown etiology in adult patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Bronchiectasis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Female
  • Genotype
  • Heterozygote*
  • Humans
  • Male
  • Mutation / genetics*
  • Sputum / microbiology


  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator