Alpha-1 Antitrypsin MZ Heterozygosity is an Endotype of Chronic Obstructive Pulmonary Disease.
Auyon J GhoshBrian D HobbsMatthew MollAabida SaferaliAdel El-BoueizJeong Hyun YunFrank SciurbaLucas BarwickAndrew H LimperKevin FlahertyGerard CrinerKevin K BrownRobert A WiseFernando J MartinezDavid LomasPeter J CastaldiVincent J CareyDawn L DeMeoMichael H ChoEdwin K SilvermanCraig P HershPublished in: American journal of respiratory and critical care medicine (2021)
Carriers of the alpha-1 antitrypsin Z allele (MZ heterozygotes) with COPD had lower lung function and more emphysema compared to 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.