The Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis Study (GRADS) Alpha-1 study [A1AT]

Whole genome mRNA and microRNA profiling of bronchoalveolar lavage (BAL) and peripheral blood mononuclear cell (PBMC) in Alpha-1 Antitrypsin Deficiency patients with PiZZ or PiMZ alpha-1 antitrypsin genotypes Overall design: 89 patients affected by AATD were recruited at Alpha-1 Foundation Research Registry at the Medical University of South Carolina (MUSC) with matched BAL and PBMC samples. The study population includes three groups: (1) individuals with PiZZ not receiving augmentation therapy (n=29), (2) individuals with PiZZ receiving augmentation therapy (n=22) and (3) individuals with PiMZ not receiving augmentation therapy (n=38).