1. High frequency of the R75Q CFTR variation in patients with chronic obstructive pulmonary disease.
- Author
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Divac A, Nikolic A, Mitic-Milikic M, Nagorni-Obradovic L, Petrovic-Stanojevic N, Dopudja-Pantic V, Nadaskic R, Savic A, and Radojkovic D
- Subjects
- Adult, Aged, Aged, 80 and over, Female, Humans, Male, Middle Aged, Cystic Fibrosis Transmembrane Conductance Regulator genetics, Pulmonary Disease, Chronic Obstructive genetics
- Abstract
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.
- Published
- 2004
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