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
- pulmonary hypertension
- end stage renal disease
- chronic obstructive pulmonary disease
- genome wide
- newly diagnosed
- ejection fraction
- chronic kidney disease
- lung function
- idiopathic pulmonary fibrosis
- dna methylation
- magnetic resonance
- magnetic resonance imaging
- pulmonary fibrosis
- image quality
- smoking cessation
- patient reported outcomes
- genome wide identification
- air pollution
- contrast enhanced
- dual energy