Evaluation of KFTR gene mutation in copd patients

Introduction: COPD is a heterogeneous condition characterized by chronic respiratory symptoms due to abnormalities in the airways and/or alveoli that cause persistent, often progressive airflow obstruction. While some smokers or people exposed to the same environmental exposures develop COPD, others do not, and COPD is more common in some families, suggesting that genetic factors play an important role in the pathogenesis of COPD. There are studies suggesting that the CFTR gene, which has a role in the development of cystic fibrosis, may also play a role in the development of COPD. Therefore, in this study, we aimed to evaluate the frequency of CFTR gene mutation in patients with COPD in Turkish population and its role in the development of COPD. Material and Method: The study included 55 COPD patients and 26 control patients who were admitted to the Chest Diseases outpatient clinic and/or hospitalized in the ward of Balcalı Hospital, Cukurova University Faculty of Medicine. Their demographic data, pulmonary function tests and Thorax CT and/or PA Chest x-rays were recorded. In both patient groups, blood samples were analyzed with the Biorad CFX 96 Real Time PCR device and KFTR gene mutations were detected and recorded. All data were analyzed with SPSS statistical program. Results: The study included 55 (67.9%) COPD patients and 26 (32.1%) control patients. The mean age of the patients with COPD was 66.4±9.0 years and 54 (98.2%) were male and 1 (1.8%) was female. The mean age of the patients in the control group was 56.3±8.6 years and 14 (53.8%) were female and 12 (46.2%) were male. While 8 (14.5%) of 55 patients with COPD had CFTR gene mutation, 2 (7.6%) of 26 control patients had CFTR gene mutation. According to the study, there was no statistically significant difference between the two groups. Conclusion: Although CFTR gene mutation is more common in patients with COPD, there was no statistical significance between the study groups. Keywords: COPD, CFTR gene mutation, Cystic Fibrosis