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Alpha-1-antitrypsin deficiency in Madeira (Portugal): the highest prevalence in the world

2009-10Journal article Restricted access
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dc.contributor.authorSpínola, Carla
dc.contributor.authorBruges-Armas, Jácome
dc.contributor.authorPereira, Conceição
dc.contributor.authorBrehm, António
dc.contributor.authorSpínola, Hélder
dc.date.accessioned2018-11-13T10:04:53Z
dc.date.available2018-11-13T10:04:53Z
dc.date.issued2009-10
dc.description.abstractAlpha-1-antitrypsin (AAT) deficiency is a common genetic disease which affects both lung and liver. Early diagnosis can help asymptomatic patients to adjust their lifestyle choices in order to reduce the risk of Chronic Obstructive Pulmonary Disease (COPD). The determination of this genetic deficiency prevalence in Madeira Island (Portugal) population is important to clarify susceptibility and define the relevance of performing genetic tests for AAT on individuals at risk for COPD. Two hundred samples of unrelated individuals from Madeira Island were genotyped for the two most common AAT deficiency alleles, PI*S and PI*Z, using Polymerase Chain Reaction-Mediated Site-Directed Mutagenesis. Our results show one of the highest frequencies for both mutations when compared to any already studied population in the world. In fact, PI*S mutation has the highest prevalence (18%), and PI*Z mutation (2.5%) was the third highest worldwide. The frequency of AAT deficiency genotypes in Madeira (PI*ZZ, PI*SS, and PI*SZ) is estimated to be the highest in the world: 41 per 1000. This high prevalence of AAT deficiency on Madeira Island reveals an increased genetic susceptibility to COPD and suggests a routine genetic testing for individuals at risk.
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationSpínola, C., Bruges-Armas, J., Pereira, C., Brehm, A., & Spínola, H. (2009). Alpha-1-antitrypsin deficiency in Madeira (Portugal): the highest prevalence in the world. Respiratory Medicine, 103(10), 1498-1502.pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.13/2160
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.subjectAlpha-1-antitrypsin deficiencypt_PT
dc.subjectMadeira Island (Portugal)pt_PT
dc.subjectS and Z mutationspt_PT
dc.subject.pt_PT
dc.subjectEscola Superior de Tecnologias e Gestãopt_PT
dc.titleAlpha-1-antitrypsin deficiency in Madeira (Portugal): the highest prevalence in the worldpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage1502pt_PT
oaire.citation.startPage1498pt_PT
oaire.citation.titleRespiratory Medicinept_PT
oaire.citation.volume103(10)pt_PT
person.familyNameArmas
person.familyNameBrehm
person.familyNameSpínola
person.givenNameJacome
person.givenNameAntonio
person.givenNameHélder
person.identifier682991
person.identifier.ciencia-id8413-FBC3-5584
person.identifier.ciencia-id3613-8D1F-0EDF
person.identifier.orcid0000-0001-7671-6521
person.identifier.orcid0000-0003-3168-5340
person.identifier.orcid0000-0002-6455-1595
person.identifier.scopus-author-id55931428200
person.identifier.scopus-author-idAuthor ID 7006085833
person.identifier.scopus-author-id10242534600
rcaap.rightsrestrictedAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication887d1c55-c104-403c-b73e-acfa317c4e5d
relation.isAuthorOfPublication62d279e2-247a-4652-a370-3e8c2a846e31
relation.isAuthorOfPublication1ba0f1f6-73c8-46b2-b152-8cd3c90207ed
relation.isAuthorOfPublication.latestForDiscovery887d1c55-c104-403c-b73e-acfa317c4e5d

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