Article
Increased exacerbations and hospitalizations among PI*MZ compared to PI*MM individuals: an electronic health record analysis.
Respiratory research - 11 Jul 2025
Tejwani Vickram, Wang Yifan, Tremblay Lauren Munoz, Azzato Elizabeth, Baldomero Arianne K, Wendt Christine, Attaway Amy, Bowler Russell, Hatipoglu Umur, Hutton Rebecca, Strange Charlie, Wang Xiaofeng, Ortega Victor E, Zein Joe, Stoller James K
Abstract excerpt
BACKGROUND: The best described endotype of COPD is alpha-1 antitrypsin (AAT) deficiency, due to a genetic abnormality in the SERPINA1 gene. Common deficient PI variants are the Z and S variants. Homozygotes for the Z allele (PI*ZZ individuals) carry the genotype most commonly associated with severe AAT deficiency (AATD), but a highly prevalent endotype is the heterozygous state (PI*MZ individuals). The effect of...
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