Alpha1-Antitrypsin in Lung Diseases: A Cross-Sectional Observational Study.

ABSTRACT: Major mutations of SERPINA1, the gene encoding alpha1-antitrypsin (A1AT), are known to cause severe emphysema. Our study aimed to investigate the role of major mutations modulating A1AT levels in several lung pathologies and control groups. Blood samples were collected from healthy non-smokers (N⁰ = 85), healthy smokers (N⁰ = 291), healthy ex-smokers (N⁰ = 127), smokers with chronic obstructive lung disease (COPD, N⁰ = 187), ex-smokers with COPD (N⁰ = 64), and patients with asthma (N⁰ = 194), interstitial lung disease (ILD) (N⁰ = 93), sarcoidosis (N⁰ = 30) and cystic fibrosis (N⁰ = 26). Clinical and respiratory parameters, A1AT levels, the extent of emphysema and comorbidities on low-d

SUBMITTER: Paska C 

PROVIDER: S-EPMC12155688 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature