High frequency of the R75Q CFTR variation in patients with chronic obstructive pulmonary disease.
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.
Divac
Aleksandra
A
Institute of Molecular Genetics and Genetic Engineering, Vojvode Stepe 444A, 11000 Belgrade, Serbia and Montenegro.
Nikolic
Aleksandra
A
Mitic-Milikic
Marija
M
Nagorni-Obradovic
Ljudmila
L
Petrovic-Stanojevic
Natasa
N
Dopudja-Pantic
Vesna
V
Nadaskic
Ruzica
R
Savic
Ana
A
Radojkovic
Dragica
D
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D029424:Pulmonary Disease, Chronic Obstructive / Q000235:genetics*
D019005:Cystic Fibrosis Transmembrane Conductance Regulator