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Título: | Genotypic frequencies of mutations associated with alpha-1 antitrypsin deficiency in unrelated bone marrow donors from the Murcia Región donor registry in the southeast of Spain |
Fecha de publicación: | 2-sep-2023 |
Editorial: | MDPI |
Cita bibliográfica: | Diagnostics 2023, 13(17), 2845 |
ISSN: | Electronic: 2075-4418 |
Palabras clave: | AAT1 deficiency Chronic obstructive pulmonary disease SERPINE1 gene Pi system |
Resumen: | Alpha-1 antitrypsin (AAT1) deficiency (AAT1D) is an inherited disease with an increased risk of chronic obstructive pulmonary disease (COPD), liver disease, and skin and blood vessel problems. AAT1D is caused by mutations in the SERPINE1 gene (Serine Protease Inhibitor, group A, member 1). Numerous variants of this gene, the Pi system, have been identified. The most frequent allelic variants are Pi*M, Pi*S, and Pi*Z. The development of COPD requires both a genetic predisposition and the contribution of an environmental factor, smoking being the most important. Studies on this deficiency worldwide are very scarce, and it is currently considered a rare disease because it is underdiagnosed. The aim of this study was to analyze the genotypic frequencies of mutations associated with AAT1 deficiency in unrelated bone marrow donors from the donor registry of the Region of Murcia in southeastern Spain due to the high risk of presenting with different pathologies and underdiagnosis in the population. A total of 112 DNA-healthy voluntary unrelated bone marrow donors from different parts of the Region of Murcia were analyzed retrospectively. AAT1 deficiency patient testing involved an automated biochemical screening routine. The three main variants, Pi*M, Pi*Z, and Pi*S, were analyzed in the SERPINE1 gene. Our results showed a frequency of 3.12% of the Pi*Z (K342) mutation in over 224 alleles tested in the healthy population. The frequency of Pi*S (V264) was 11.1%. The frequency of the haplotype with the most dangerous mutation, EK342 EE264, was 4.46%, and the frequency of EK342 EV264 was 1.78% in the healthy population. Frequencies of other EE342 EV264-mutated haplotypes accounted for 18.7%. As for the EE342 VV264 haplotype, 0.89% of the total healthy population presented heterozygous for the EV264 mutation and one individual presented homozygous for the VV264 mutation. In conclusion, the frequencies of Pi mutations in the healthy population of the Region of Murcia were not remarkably different from the few studies reported in Spain. The genotype and haplotype frequencies followed the usual pattern. Health authorities should be aware of this high prevalence of the Pi*S allelic variant and pathological genotypes such as Pi*MZ and Pi*SZ in the healthy population if they consider screening the smoking population. |
Autor/es principal/es: | Cuenca, Irene Botella, Carmen Moya Quiles, María Rosa Jiménez Coll, Víctor Galián, José Antonio Martínez Banaclocha, Helios Muro Pérez, Manuel Minguela, Alfredo Legaz Pérez, Isabel Muro, Manuel |
Facultad/Departamentos/Servicios: | Facultades, Departamentos, Servicios y Escuelas::Departamentos de la UMU::Ciencias Sociosanitarias |
Versión del editor: | https://www.mdpi.com/2075-4418/13/17/2845 |
URI: | http://hdl.handle.net/10201/142916 |
DOI: | https://doi.org/10.3390/diagnostics13172845 |
Tipo de documento: | info:eu-repo/semantics/article |
Número páginas / Extensión: | 10 |
Derechos: | info:eu-repo/semantics/openAccess Atribución 4.0 Internacional |
Descripción: | © 2023 by the authors. This manuscript version is made available under the CC-BY 4.0 license http://creativecommons.org/licenses/by/4.0/. This document is the Published version of a Published Work that appeared in final form in Diagnostics. To access the final edited and published work see https://doi.org/10.3390/diagnostics13172845 |
Aparece en las colecciones: | Artículos: Ciencias Sociosanitarias |
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