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.
Institute of Molecular Genetics and Genetic Engineering, Vojvode Stepe 444A, 11000 Belgrade, Serbia and Montenegro.
Aleksandra
A
Divac
Aleksandra
A
Nikolic
Marija
M
Mitic-Milikic
Ljudmila
L
Nagorni-Obradovic
Natasa
N
Petrovic-Stanojevic
Vesna
V
Dopudja-Pantic
Ruzica
R
Nadaskic
Ana
A
Savic
Dragica
D
Radojkovic
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