SERPINA1 and More? A Putative Genetic Contributor to Pulmonary Dysfunction in Alpha-1 Antitrypsin Deficiency.
Aleksandra Jezela-StanekJoanna Chorostowska-WynimkoPublished in: Journal of clinical medicine (2023)
Alpha-1 antitrypsin deficiency (AATD) is a common inherited disorder associated with an increased risk of pulmonary disease. Its clinical presentation, including the nature and severity of organ involvement, is highly variable and unpredictable and is not as strongly linked to genotype and environmental exposure (e.g., smoking history) as might be expected. Significant differences were observed within matched populations of severe AATD patients regarding risk of complications, age at onset, and disease course, including the dynamics of lung function decline. Genetic factors are among the putative modifiers contributing to the clinical variability in AATD, yet their role remains elusive. Here, we review and summarise our current understanding of epigenetic and genetic modifiers of pulmonary dysfunction in subjects with AATD.
Keyphrases
- lung function
- pulmonary hypertension
- genome wide
- end stage renal disease
- oxidative stress
- chronic obstructive pulmonary disease
- cystic fibrosis
- copy number
- newly diagnosed
- ejection fraction
- chronic kidney disease
- dna methylation
- air pollution
- risk factors
- peritoneal dialysis
- replacement therapy
- early onset
- stress induced
- risk assessment
- patient reported