Understanding the genetics of chronic obstructive pulmonary disease, α1-antitrypsin deficiency, and implications for clinical practice

ABSTRACT Cigarette smoking and poor air quality are the greatest risk factors for developing chronic obstructive pulmonary disease (COPD), but growing evidence indicates that genetic also affect predisposition to clinical expression of disease. With exception α1-antitrypsin deficiency (AATD), a rare autosomal recessive disorder is present in 1–3% individuals with COPD, no single gene associated development lung Instead, complex interplay genetic, epigenetic, environmental basis persistent inflammatory responses, accelerated cell aging, death, fibrosis, leading symptoms COPD different phenotypic presentations. In this brief review, we discuss current understanding genetics pathogenetics AATD, epigenetic influences on disease, how classifying by phenotype can influence treatment patient outcomes.