Year: 2024
Type: article
Abstract: Although the emphysema pathogenesis involves a complex network of gene-environment interactions [1], monogenic disease alpha-1-anti-trypsin (AAT) deficiency (AATD) is associated with emphysema. Severe AATD is characterised by the “ Z ” allele homozygosity in the SERPINA1 gene, where individuals have <20% normal concentrations of AAT protein, predisposing them to liver and lung disease [2]. Footnotes This manuscript has recently been accepted for publication in the European Respiratory Journal . It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJ online. Please open or download the PDF to view this article. Conflict of interest: J. Rojas-Quintero has nothing to disclose. Conflict of interest: S.A. Ochsner has nothing to disclose. Conflict of interest: H.-S. Lee has nothing to disclose. Conflict of interest: C. Cong has nothing to disclose. Conflict of interest: A. W. Cohen has nothing to disclose. Conflict of interest: A. S. Colborg has nothing to disclose. Conflict of interest: K. Tsoyi has nothing to disclose. Conflict of interest: M. C. Basil has nothing to disclose. Conflict of interest: E. Cantu reports support for the present study from NIH, grants from NIH, XVIVO Inc, CareDx and Pulmocide, consultancy fees from CSL Behring and United Therapeutics, support for attending meetings from Pulmocide, Ltd, and leadership roles with International Society for Heart and Lung Transplantation (Board of Directors), UNOS Lung Committee (Regional Representative) and FDA (Consultant for device group). Conflict of interest: I. O. Rosas reports grants from Three Lakes Foundation and Boehringer Ingelheim, and consultancy fees from Genentech Roche, Boehringer Ingelheim and Avalyn Pharmaceuticals. Conflict of interest: N. J. McKenna reports support for the present study from NIH. Conflict of interest: R.S-J. Estépar reports support for the present study from NHLBI; grants or contracts from Lung Biotechnology, Insmed and Boehringer Ingelheim; consulting fees from Leuko Labs and Mount Sinai; three patents; board membership of Fundación MVision; and that they are co-founder and stockholder of Quantitative Image Solutions. Conflict of interest: I. Barjaktarevic reports grants from Theravance and Viatris, Aerogen, Alpha-1 Foundation, Johnny Carson's Foundation and Takeda, consultancy fees from Astra Zeneca, Sanofi/Regeneron, Grifols, Verona Pharma, Inhibrx and Takeda, and payment or honoraria for lectures, presentations, manuscript writing or educational events from Astra Zeneca, Sanofi/Regeneron, Grifols, Verona Pharma, Inhibrx and Takeda. Conflict of interest: A. A. Wilson reports support for the present study from NIH, grants from Grifols NA and Beam Therapeutics, and a leadership role with Alpha-1 Foundation (Scientific Director). Conflict of interest: F. Polverino reports support for the present study from NHLBI (HL149744) and Baylor College of Medicine funds, grants from Victory Houston and Boehringer Ingelheim, consultancy fees from Sanofi-Regeneron, Verona Pharma, Genentech, AstraZeneca and Amgen, support for attending meetings from ATS, and leadership roles with European Respiratory Journal (Section Editor) and RCMB (program committee chair).
Source: European Respiratory Journal
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W4403407135