Risk of lung disease in the PI*SS genotype of alpha-1 antitrypsin: an EARCO research project

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 ri...

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Detalles Bibliográficos
Autores: Martín, Teresa, Guimarães, Catarina, Esquinas, Cristina, Torres-Durán, María, Turner, Alice M., Tanash, Hanan, Rodríguez-García, Carlota, Corsico, Angelo, López-Campos, J. L., Bartošovská, Eva, Stæhr Jensen, Jens-Ulrik, Hernández-Pérez, José María, Sucena, María, Miravitlles, Marc
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/386588
Acceso en línea:http://hdl.handle.net/10261/386588
https://api.elsevier.com/content/abstract/scopus_id/85197119473
Access Level:acceso abierto
Palabra clave:Alpha-1 antitrypsin
Lung disease
PI*SS
Registries
Descripción
Sumario: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.

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