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Risk of lung disease in the PI*SS genotype of alpha-1 antitrypsin: an EARCO research project
T. Martín, C. Guimarães, C. Esquinas, M. Torres-Duran, AM. Turner, H. Tanash, C. Rodríguez-García, A. Corsico, JL. López-Campos, E. Bartošovská, JU. Stæhr Jensen, JM. Hernández-Pérez, M. Sucena, M. Miravitlles
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články, multicentrická studie
NLK
BioMedCentral
od 2000-01-04
BioMedCentral Open Access
od 2000
Directory of Open Access Journals
od 2000
Free Medical Journals
od 2000
PubMed Central
od 2000
Europe PubMed Central
od 2000
ProQuest Central
od 2009-01-01
Open Access Digital Library
od 2000-06-01
Open Access Digital Library
od 2000-01-01
Open Access Digital Library
od 2000-01-01
Medline Complete (EBSCOhost)
od 2000-01-01
Health & Medicine (ProQuest)
od 2009-01-01
ROAD: Directory of Open Access Scholarly Resources
od 2000
Springer Nature OA/Free Journals
od 2000-04-01
- MeSH
- alfa-1-antitrypsin * genetika MeSH
- deficit alfa1-antitrypsinu * genetika epidemiologie diagnóza MeSH
- genotyp * MeSH
- kvalita života MeSH
- lidé středního věku MeSH
- lidé MeSH
- plicní nemoci genetika epidemiologie diagnóza MeSH
- registrace MeSH
- rizikové faktory MeSH
- senioři MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
BACKGROUND: The PI*S variant is one of the most prevalent mutations within alpha-1 antitrypsin deficiency (AATD). The risk of developing AATD-related lung disease in individuals with the PI*SS genotype is poorly defined despite its substantial prevalence. Our study aimed to characterize this genotype and its risk for lung disease and compare it with the PI*ZZ and PI*SZ genotypes using data from the European Alpha-1 antitrypsin Deficiency Research Collaboration international registry. METHOD: Demographic, clinical, functional, and quality of life (QoL) parameters were assessed to compare the PI*SS characteristics with the PI*SZ and PI*ZZ controls. A propensity score with 1:3 nearest-neighbour matching was performed for the most important confounding variables. RESULTS: The study included 1007 individuals, with PI*SS (n = 56; 5.6%), PI*ZZ (n = 578; 57.4%) and PI*SZ (n = 373; 37.0%). The PI*SS population consisted of 58.9% men, with a mean age of 59.2 years and a mean FEV1(% predicted) of 83.4%. Compared to PI*ZZ individuals they had less frequent lung disease (71.4% vs. 82.2%, p = 0.037), COPD (41.4% vs. 60%, p = 0.002), and emphysema (23.2% vs. 51.9%, p < 0.001) and better preserved lung function, fewer exacerbations, lower level of dyspnoea, and better QoL. In contrast, no significant differences were found in the prevalence of lung diseases between PI*SS and PI*SZ, or lung function parameters, exacerbations, dyspnoea, or QoL. CONCLUSIONS: We found that, as expected, the risk of lung disease associated with the PI*SS genotype is significantly lower compared with PI*ZZ, but does not differ from that observed in PI*SZ individuals, despite having higher serum AAT levels. TRIAL REGISTRATION: www. CLINICALTRIALS: gov (ID: NCT04180319).
Department of Internal Medicine and Therapeutics University of Pavia Pavia Italy
Faculty of Medicine and Health Sciences University of Barcelona Barcelona Spain
Institute of Applied Health Research University of Birmingham Birmingham UK
Pneumology Department Centro Hospitalar Universitário de Santo António Porto Portugal
Pneumology Department Hospital Beatriz Ângelo Av Carlos Teixeira 3 Loures 2674 514 Portugal
Pneumology Department Hospital Senhora da Oliveira Guimarães Portugal
Pneumology Unit IRCCS San Matteo Hospital Foundation Pavia Italy
Respiratory Medicine University Hospitals Birmingham NHS Foundation Trust Birmingham UK
Citace poskytuje Crossref.org
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