High frequency of the R75Q CFTR variation in patients with chronic obstructive pulmonary disease

J Cyst Fibros. 2004 Aug;3(3):189-91. doi: 10.1016/j.jcf.2004.05.049.


We performed the complete screening of the CFTR gene in a group of 31 patients with COPD in order to investigate the impact of mutations and polymorphisms in the CFTR gene. The cumulative frequency of CFTR mutations (17.74%) was significantly higher than in our general population (P < 0.0001). The R75Q was significantly overrepresented in COPD patients (8.06%; P = 0.002). In all patients carrying the R75Q chronic bronchitis was a dominant symptom of COPD, and all were homozygous for the V470 allele. These findings suggest that R75Q mutation could be characteristic CFTR variant for COPD patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Pulmonary Disease, Chronic Obstructive / genetics*


  • Cystic Fibrosis Transmembrane Conductance Regulator