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Mucus plugs-associated gene expression identifies pathophysiology shared with chronic bronchitis
Whitney N Souery1, Ehab Billatos1, Rim Elalami2
1Section of Computational Biomedicine, Department of Medicine, Boston University Chobanian and Avedisian School of Medicine, Boston, MA, United States.
Rationale:
Mucus plug formation and chronic bronchitis are manifestations of mucus pathology in chronic obstructive pulmonary disease. Identifying gene expression changes related to mucus pathology could provide insight into its pathogenesis.
Objectives:
To investigate gene expression changes in individuals with mucus plugs, identify related biological pathways, and assess whether mucus plug-related gene expression associates with clinical features of other mucus pathologies.
Methods:
We studied 290 participants from the Detection of Early Lung Cancer Among Military Personnel 2 study with mainstem bronchial brush bulk RNA-sequencing data (n = 204 discovery, n = 86 validation). We scored mucus plugging based on the number of lung segments with mucus plugs identified on chest computed tomography scans and used correlative analysis to identify differentially expressed genes and examine their association with chronic bronchitis symptoms.
Measurements And Main Results:
Seventy-six participants (37%) in the discovery set had mucus plugs. Differentially expressed genes were broadly epithelial- or immune-related. Epithelial-related genes show decreased expression of genes involved in cilia maintenance and microtubule function and increased expression of genes related to epithelial maintenance and protection. Expression patterns of epithelial-related genes are associated with chronic bronchitis symptoms. Immune-related genes are enriched for innate and adaptive pathways. Expression of immune genes varies by lung function and was more weakly associated with mucus plugs than that of epithelial-related genes. Findings were replicated in an independent validation set.
Conclusion:
Several distinct gene expression patterns are linked to the presence of mucus plugs, highlighting biological -pathways involved in mucus pathophysiology. Variability in gene expression suggests a spectrum of mucus pathophysiology contributes to mucus plugs and chronic bronchitis symptoms.
Insights
Gene expression patterns in mucus plugs reveal distinct epithelial and immune pathways. These findings offer insights into mucus pathology in chronic obstructive pulmonary disease (COPD) and chronic bronchitis symptoms.
Area of Science:
- Pulmonary Medicine
- Molecular Biology
- Genomics
Background:
- Mucus plug formation and chronic bronchitis are key features of mucus pathology in chronic obstructive pulmonary disease (COPD).
- Understanding the genetic underpinnings of mucus pathology is crucial for elucidating its pathogenesis.
Purpose of the Study:
- Investigate gene expression alterations in individuals with mucus plugs.
- Identify associated biological pathways.
- Correlate mucus plug-related gene expression with clinical features of other mucus pathologies.
Main Methods:
- Utilized bulk RNA-sequencing on bronchial brush samples from 290 participants (204 discovery, 86 validation) in the "Detection of Early Lung Cancer Among Military Personnel 2" study.
- Quantified mucus plugging via chest CT scans and performed correlative analyses to identify differentially expressed genes.
- Examined associations between gene expression and chronic bronchitis symptoms.
Main Results:
- Mucus plugs were present in 37% of the discovery set.
- Differentially expressed genes were predominantly epithelial (e.g., decreased cilia maintenance, increased epithelial protection) and immune-related.
- Epithelial gene expression patterns correlated with chronic bronchitis symptoms.
- Immune gene expression varied with lung function and showed weaker association with mucus plugs compared to epithelial genes.
- Key findings were validated in an independent cohort.
Conclusions:
- Distinct gene expression patterns are associated with mucus plug presence, revealing critical biological pathways in mucus pathophysiology.
- Variability in gene expression suggests a spectrum of mucus pathophysiology underlies mucus plugs and chronic bronchitis.
- These findings provide a molecular basis for understanding mucus-related disorders in COPD.
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