Cftr Mutations Are Associated With Chronic Bronchitis In Copdgene Subjects

Introduction: While mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) is associated with cystic fibrosis (CF), studies suggest that heterozygous CFTR mutations are associated with increased risk of respiratory infections and allergic bronchopulmonary aspergillosis, suggesting that CFTR heterozygosity can have functional consequence. Chronic obstructive pulmonary disease (COPD) is phenotypically heterogeneous, with varying manifestations of emphysema, chronic bronchitis, airway wall thickening and bronchiectasis despite similar degrees of lung function impairment. In addition, cigarette smoke results in acquired CFTR deficiency in smokers with and without COPD. Here, we hypothesize that heterozygous mutations in CFTR in subjects with a history of smoking are associated with COPD and related phenotypes. Methods: Whole genome sequencing was performed in 8597 subjects …