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
- genome wide
- ejection fraction
- chronic kidney disease
- early onset
- lung function
- prognostic factors
- dna methylation
- replacement therapy
- patient reported outcomes
- magnetic resonance imaging
- magnetic resonance
- image quality
- contrast enhanced
- cystic fibrosis
- transcription factor
- pulmonary fibrosis
- air pollution