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
- chronic obstructive pulmonary disease
- genome wide
- chronic kidney disease
- ejection fraction
- newly diagnosed
- early onset
- lung function
- dna methylation
- genome wide identification
- replacement therapy
- smoking cessation
- magnetic resonance imaging
- magnetic resonance
- patient reported outcomes
- contrast enhanced
- transcription factor
- patient reported