American journal of respiratory and critical care medicine
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Am. J. Respir. Crit. Care Med. · Feb 2022
Alpha-1 Antitrypsin MZ Heterozygosity is an Endotype of Chronic Obstructive Pulmonary Disease.
Rationale: Multiple studies have demonstrated an increased risk of chronic obstructive pulmonary disease (COPD) in heterozygous carriers of the AAT (alpha-1 antitrypsin) Z allele. However, it is not known if MZ subjects with COPD are phenotypically different from noncarriers (MM genotype) with COPD. Objectives: To assess if MZ subjects with COPD have different clinical features compared with MM subjects with COPD. ⋯ We found one gene, PGF (placental growth factor), to be differentially expressed in lung tissue from one study between MZ subjects and MM subjects. Conclusions: Carriers of the AAT Z allele (those who were MZ heterozygous) with COPD had lower lung function and more emphysema than MM subjects with COPD. Taken with the subtle differences in gene expression between the two groups, our findings suggest that MZ subjects represent an endotype of COPD.
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Am. J. Respir. Crit. Care Med. · Feb 2022
Letter Randomized Controlled TrialPhenotypes of COVID-19 Patients with Positive Clinical Response to Helmet Noninvasive Ventilation.