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C FTR variants are associated with chronic bronchitis in smokers
Aabida Saferali1,2, Dandi Qiao1,2, Wonji Kim1,2
1Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA.
The European Respiratory Journal
|January 8, 2022
Summary
Cigarette smokers with cystic fibrosis transmembrane conductance regulator (CFTR) variants show increased chronic bronchitis risk. Two CFTR variants may also be linked to chronic obstructive pulmonary disease (COPD), suggesting a genetic role in smoking-related lung diseases.
Area of Science:
- Genetics
- Pulmonology
- Respiratory Medicine
Background:
- Loss-of-function variants in both copies of the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause cystic fibrosis (CF).
- Reduced CFTR function from a single deleterious variant may have clinical consequences.
- This study investigates the association between CFTR variants and chronic obstructive pulmonary disease (COPD) in smokers.
Purpose of the Study:
- To test the hypothesis that CFTR variants are associated with COPD and related phenotypes in individuals with a history of smoking.
- To explore the role of CFTR gene variants in the development of chronic bronchitis and COPD.
Main Methods:
- Whole-genome sequencing was performed on 8597 subjects from the COPDGene study (current and former smokers).
- Clinically annotated CFTR variants were extracted for association testing with COPD and related phenotypes.
- Replication analysis was conducted in 2118 subjects from the ECLIPSE study.
Main Results:
- CF-causing CFTR variants were associated with chronic bronchitis in both the COPDGene study and a meta-analysis including the ECLIPSE study (OR 1.53 and 1.52, respectively).
- The F508del CFTR variant was significantly associated with chronic bronchitis in the COPDGene study (OR 1.47).
- Subjects with two or more CFTR variants on separate alleles were enriched for COPD cases (p=0.010).
Conclusions:
- Smokers carrying one deleterious CFTR variant exhibit higher rates of chronic bronchitis.
- The presence of two CFTR variants may be associated with COPD.
- Genetically mediated reduction in CFTR function contributes to COPD-related phenotypes, particularly chronic bronchitis.
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