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Alpha-1 Antitrypsin MZ Heterozygosity Is an Endotype of Chronic Obstructive Pulmonary Disease

2021; American Thoracic Society; Volume: 205; Issue: 3 Linguagem: Inglês

10.1164/rccm.202106-1404oc

1535-4970

Auyon Ghosh, Brian D. Hobbs, Matthew Moll, Aabida Saferali, Adel Boueiz, Jeong H. Yun, Frank C. Sciurba, Lucas Barwick, Andrew H. Limper, Kevin R. Flaherty, Gerard J. Criner, Kevin K. Brown, Robert A. Wise, Fernando J. Martínez, David A. Lomas, Peter J. Castaldi, Vincent J. Carey, Dawn L. DeMeo, Michael H. Cho, Edwin K. Silverman, Craig P. Hersh, James D. Crapo, Edwin K. Silverman, Barry J. Make, Elizabeth A. Regan, Terri H. Beaty, Peter J. Castaldi, Michael H. Cho, Dawn L. DeMeo, Adel Boueiz, Marilyn G. Foreman, Auyon Ghosh, Lystra P. Hayden, Craig P. Hersh, Jacqueline B. Hetmanski, Brian D. Hobbs, John E. Hokanson, Wonji Kim, Nan M. Laird, Christoph Lange, Sharon M. Lutz, Merry‐Lynn McDonald, Dmitry Prokopenko, Matthew Moll, Jarrett D. Morrow, Dandi Qiao, Aabida Saferali, Phuwanat Sakornsakolpat, Emily S. Wan, Jeong H. Yun, Juan Pablo Centeno, Jean‐Paul Charbonnier, Harvey O. Coxson, Craig J. Galbán, MeiLan K. Han, Eric A. Hoffman, Stephen M. Humphries, Francine L. Jacobson, Philip F. Judy, Ella A. Kazerooni, Alex Kluiber, David A. Lynch, Pietro Nardelli, John D. Newell, Aleena Notary, Andrea Oh, James C. Ross, Raúl San Jośe Estépar, Joyce Schroeder, Jered Sieren, Berend C. Stoel, Juerg Tschirren, Edwin J.R. van Beek, Bram van Ginneken, Eva M. van Rikxoort, Gonzalo Vegas‐Sánchez‐Ferrero, Lucas Veitel, George R. Washko, Carla G. Wilson, Robert L. Jensen, D. H. Everett, Jim Crooks, Katherine Pratte, Matthew Strand, Erin Austin, Gregory L. Kinney, Kendra A. Young, Surya P. Bhatt, Jessica Bon, Alejandro A. Díaz, Barry J. Make, Susan Murray, Elizabeth A. Regan, Xavier Soler, Russell P. Bowler, Katerina Kechris, Farnoush Banaei‐Kashani, Jeffrey L. Curtis, Perry G. Pernicano, Nicola A. Hanania, Mustafa Atik, Aladin M. Boriek, Kalpatha Guntupalli, Elizabeth Guy, Amit Parulekar, Craig P. Hersh, George Washko, R. Graham Barr, John Austin, Belinda D’Souza, Byron Thomashow, Neil MacIntyre, H. Page McAdams, Lacey Washington, Charlene McEvoy, Joseph Tashjian, Robert A. Wise, Robert Brown, Nadia N. Hansel, Karen M. Horton, Allison Lambert, Nirupama Putcha, Richard Casaburi, Alessandra Adami, Matthew J. Budoff, Hans Fischer, János Pórszász, Harry B. Rossiter, William Stringer, Amir Sharafkhaneh, Charlie Lan, Christine Wendt, Brian Bell, Ken M. Kunisaki, Eric L. Flenaugh, Hirut Gebrekristos, Mario Castro, Silanath Terpenning, Gloria Westney, Richard Rosiello, David Pace, Gerard J. Criner, David Ciccolella, Francis Cordova, Chandra Dass, Gilbert E. D’Alonzo, Parag Desai, Michael R. Jacobs, Steven Kelsen, Victor Kim, A. James Mamary, Nathaniel Marchetti, Aditi Satti, Kartik Shenoy, Robert M. Steiner, Alex Swift, Irene Swift, Maria Elena Vega‐Sanchez, Mark T. Dransfield, William R. Bailey, Anand Iyer, Hrudaya Nath, J. Michael Wells, Douglas Conrad, Andrew Yen, Alejandro P. Comellas, Karin F. Hoth, John Newell, Brad Thompson, Ella A. Kazerooni, Wassim W. Labaki, Craig J. Galbán, Dharshan Vummidi, Jo Billings, Abbie Begnaud, Tadashi Allen, Frank C. Sciurba, Divay Chandra, Joel L. Weissfeld, Antonio Anzueto, Sylvia Adams, Diego Maselli-Caceres, Mario E. Ruiz, Harjinder Singh,

Pulmonary Hypertension Research and Treatments

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.