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
- newly diagnosed
- early onset
- computed tomography
- idiopathic pulmonary fibrosis
- peritoneal dialysis
- magnetic resonance imaging
- patient reported outcomes
- prognostic factors
- genome wide identification
- magnetic resonance
- contrast enhanced
- pulmonary fibrosis
- smoking cessation
- drug induced
- positron emission tomography
- transcription factor