학술논문
Risk of lung disease in the PI*SS genotype of alpha-1 antitrypsin: an EARCO research project.
Document Type
Academic Journal
Author
Martín T; Pneumology Department, Hospital Beatriz Ângelo, Av. Carlos Teixeira 3, Loures, 2674-514, Portugal. teresamartinrioja@gmail.com.; Guimarães C; Pneumology Department, Hospital Senhora da Oliveira, Guimarães, Portugal.; Esquinas C; Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain.; Torres-Duran M; Pneumology Department, NeumoVigo I+i Research Group, Hospital Álvaro Cunqueiro, IIS Galicia Sur, Vigo, Spain.; Turner AM; Respiratory Medicine, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.; Institute of Applied Health Research, University of Birmingham, Birmingham, UK.; Tanash H; Department of Respiratory Medicine and Allergology, Skåne University Hospital, Lund University, Malmö, Sweden.; Rodríguez-García C; Pneumology Department, Complejo Hospitalario Clínico-Universitario de Santiago, Santiago de Compostela, Spain.; Corsico A; Pneumology Unit, IRCCS San Matteo Hospital Foundation, Pavia, Italy.; Department of Internal Medicine and Therapeutics, University of Pavia, Pavia, Italy.; López-Campos JL; Unidad Médico-Quirúrgica de Enfermedades Respiratorias, Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío, Universidad de Sevilla, Sevilla, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain.; Bartošovská E; Department of Pneumology, Thomayer Hospital, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Stæhr Jensen JU; Section of Respiratory Medicine, Department of Medicine, Herlev and Gentofte Hospital, University of Copenhagen, Hellerup, Denmark.; Department of Clinical Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark.; Hernández-Pérez JM; Pneumology Department, Hospital Universitario Nuestra Señora de La Candelaria, Santa Cruz de Tenerife, Spain.; Sucena M; Pneumology Department, Centro Hospitalar Universitário de Santo António, Porto, Portugal.; Miravitlles M; Pneumology Department, Hospital Universitari Vall d'Hebron/Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus. CIBER de Enfermedades Respiratorias (CIBERES), Barcelona, Spain.
Source
Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 101090633 Publication Model: Electronic Cited Medium: Internet ISSN: 1465-993X (Electronic) Linking ISSN: 14659921 NLM ISO Abbreviation: Respir Res Subsets: MEDLINE
Subject
Language
English
Abstract
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).
(© 2024. The Author(s).)
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).
(© 2024. The Author(s).)