Rationale and Design of the Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis Study: Alpha-1 Protocol (original) (raw)

Annals of the American Thoracic Society, 2015

Abstract

Severe deficiency of alpha-1 antitrypsin has a highly variable clinical presentation. The GRADS Alpha-1 Study is a prospective, multicenter, cross-sectional, study of adults > age 35 with PiZZ or PiMZ alpha-1 antitrypsin genotypes designed to better understand if microbial factors influence this heterogeneity. Clinical symptoms, pulmonary function testing, computed chest tomography, exercise capacity, and bronchoalveolar lavage (BAL) will be used to define COPD phenotypes that can be studied with an integrated systems biology approach that includes plasma proteomics; mouth, BAL, and stool microbiome and virome analysis; blood miRNA, and blood mononuclear cell RNA and DNA profiling, and relies on global genome, transcriptome, proteome, and metabolome datasets. Matched cohorts of PiZZ participants on or off augmentation therapy, PiMZ participants not on augmentation therapy, and control participants from SPIROMICS who match on FEV1 and age will be compared. The primary analysis wil...

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