Alpha-1 Antitrypsin Gene Variants in Patients without Severe Deficiency Diagnosed with Pulmonary Emphysema on Chest CT.
Eduardo LaviñaSara LumbrerasLara BravoJoan B SorianoJosé Luis IzquierdoJosé Miguel Rodríguez González-MoroPublished in: International journal of chronic obstructive pulmonary disease (2024)
Our study confirms an association between certain variants in the alpha-1 antitrypsin gene that do not cause severe deficiency and the presence of pulmonary emphysema. This association with variants that are associated with reductions in serum AAT values is statistically significant and independent of smoking habit.
Keyphrases
- copy number
- end stage renal disease
- pulmonary hypertension
- genome wide
- chronic obstructive pulmonary disease
- chronic kidney disease
- ejection fraction
- newly diagnosed
- early onset
- lung function
- peritoneal dialysis
- idiopathic pulmonary fibrosis
- magnetic resonance imaging
- pulmonary fibrosis
- gene expression
- magnetic resonance
- drug induced
- replacement therapy
- positron emission tomography
- patient reported