Show simple item record

 
dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorBlanco, Ignacio
dc.contributor.authorBueno, Patricia
dc.contributor.authorDiego, Isidro
dc.contributor.authorPérez-Holanda, Sergio
dc.contributor.authorCasas-Maldonado, Francisco
dc.contributor.authorEsquinas López, Cristina
dc.contributor.authorMiravitlles Fernández, Marc
dc.date.accessioned2021-04-22T06:37:59Z
dc.date.available2021-04-22T06:37:59Z
dc.date.issued2017-02-13
dc.identifier.citationBlanco I, Bueno P, Diego I, Pérez-Holanda S, Casas-Maldonado F, Esquinas C, et al. Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update. Int J Chron Obstruct Pulmon Dis. 2017 Feb 13;12:561–569.
dc.identifier.issn1178-2005
dc.identifier.urihttp://hdl.handle.net/11351/5888
dc.descriptionSERPINA1; Genetic epidemiology; Protease inhibitor
dc.description.abstractIn alpha-1 antitrypsin deficiency (AATD), the Z allele is present in 98% of cases with severe disease, and knowledge of the frequency of this allele is essential from a public health perspective. However, there is a remarkable lack of epidemiological data on AATD worldwide, and many of the data currently used are outdated. Therefore, the objective of this study was to update the knowledge of the frequency of the Z allele to achieve accurate estimates of the prevalence and number of Pi*ZZ genotypes worldwide based on studies performed according to the following criteria: 1) samples representative of the general population, 2) AAT phenotyping characterized by adequate methods, and 3) measurements performed using a coefficient of variation calculated from the sample size and 95% confidence intervals. Studies fulfilling these criteria were used to develop maps with an inverse distance weighted (IDW)-interpolation method, providing numerical and graphical information of Pi*Z distribution worldwide. A total of 224 cohorts from 65 countries were included in the study. With the data provided by these cohorts, a total of 253,404 Pi*ZZ were estimated worldwide: 119,594 in Europe, 91,490 in America and Caribbean, 3,824 in Africa, 32,154 in Asia, 4,126 in Australia, and 2,216 in New Zealand. In addition, the IDW-interpolation maps predicted Pi*Z frequencies throughout the world even in some areas that lack real data. In conclusion, the inclusion of new well-designed studies and the exclusion of the low-quality ones have significantly improved the reliability of results, which may be useful to plan strategies for future research and diagnosis and to rationalize the therapeutic resources available.
dc.language.isoeng
dc.publisherDove Medical Press
dc.relation.ispartofseriesInternational Journal of Chronic Obstructive Pulmonary Disease;12
dc.rightsAttribution-NonCommercial 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/
dc.sourceScientia
dc.subjectEpidemiologia molecular
dc.subjectAlfa 1-antitripsina
dc.subject.meshalpha 1-Antitrypsin Deficiency
dc.subject.meshMolecular Epidemiology
dc.titleAlpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.2147/COPD.S125389
dc.subject.decsdeficiencia de alfa 1-antitripsina
dc.subject.decsepidemiología molecular
dc.relation.publishversionhttps://www.dovepress.com/alpha-1-antitrypsin-piz-gene-frequency-and-pizz-genotype-numbers-world-peer-reviewed-article-COPD
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Blanco I] Alpha1-Antitrypsin Deficiency Spanish Registry (REDAAT), Fundación Respira, Spanish Society of Pneumology and Thoracic Surgery (SEPAR), Barcelona. [Bueno P] Internal Medicine Department, County Hospital of Jarrio. [Diego I] Materials and Energy Department, School of Mining Engineering, Oviedo University. [Pérez-Holanda S] Surgical Department, University Central Hospital of Asturias (HUCA), Oviedo, Principality of Asturias. [Casas-Maldonado F] Pneumology Department, Complejo Hospitalario Universitario de Granada, Granada. [Esquinas C] Servei de Pneumologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Miravitlles M] Servei de Pneumologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. CIBER de Enfermedades Respiratorias (CIBERES), Barcelona, Spain
dc.identifier.pmid28243076
dc.identifier.wos000393795500001
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record