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Genetic polymorphisms and asthma: findings from a case–control study in the Madeira island population

2014Journal article Open access
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dc.contributor.authorBerenguer, Anabela
dc.contributor.authorFernandes, Ana
dc.contributor.authorOliveira, Susana
dc.contributor.authorRodrigues, Mariana
dc.contributor.authorOrnelas, Pedro
dc.contributor.authorRomeira, Diogo
dc.contributor.authorSerrão, Tânia
dc.contributor.authorRosa, Alexandra
dc.contributor.authorCâmara, Rita
dc.date.accessioned2022-03-07T10:25:37Z
dc.date.available2022-03-07T10:25:37Z
dc.date.issued2014
dc.description.abstractBackground: Asthma is a complex disease influenced by multiple genetic and environmental factors. While Madeira has the highest prevalence of asthma in Portugal (14.6%), the effect of both genetic and environmental factors in this population has never been assessed. We categorized 98 asthma patients according to the Global Initiative for Asthma (GINA) guidelines, established their sensitization profile, and measured their forced expiratory volume in 1 second (FEV1) and forced vital capacity (FVC) indexes. Selected single nucleotide polymorphisms (SNPs) were analysed as potential markers for asthma susceptibility and severity in the interleukin 4 (IL4), interleukin 13 (IL13), beta-2-adrenergic receptor (ADRB2), a disintegrin and metalloprotease 33 (ADAM33), gasdermin-like (GSDML) and the signal transducer and activator of transcription 6 (STAT6) genes comparatively to a population reference set. Results: Although mites are the major source of allergic sensitization, no significant difference was found amongst asthma severity categories. IL4-590*CT/TT and IL4-RP2*253183/183183 were found to predict the risk (2-fold) and severity (3 to 4-fold) of asthma and were associated with a lower FEV1 index. ADRB2-c.16*AG is a risk factor (3.5-fold), while genotype GSDML-236*TT was protective (4-fold) for moderate-severe asthma. ADAM33-V4*C was associated to asthma and mild asthma by the transmission disequilibrium test (TDT). Finally, ADAM33-V4*CC and STAT6-21*TT were associated with higher sensitization (mean wheal size ≥10 mm) to house dust (1.4-fold) and storage mite (7.8-fold). Conclusion: In Madeira, IL4-590C/T, IL4-RP2 253/183, GSDML-236C/T and ADAM33-V4C/G SNPs are important risk factors for asthma susceptibility and severity, with implications for asthma healthcare management.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationBerenguer, A. G., Fernandes, A. T., Oliveira, S., Rodrigues, M., Ornelas, P., Romeira, D., ... & Câmara, R. (2014). Genetic polymorphisms and asthma: findings from a case–control study in the Madeira island population. Biological research, 47(1), 1-11. https://doi.org/10.1186/0717-6287-47-40pt_PT
dc.identifier.doi10.1186/0717-6287-47-40pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.13/4117
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherBMCpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectAsthmapt_PT
dc.subjectMadeira (Portugal)pt_PT
dc.subjectSNPspt_PT
dc.subjectSusceptibilitypt_PT
dc.subjectSeveritypt_PT
dc.subject.pt_PT
dc.subjectFaculdade de Ciências Sociaispt_PT
dc.titleGenetic polymorphisms and asthma: findings from a case–control study in the Madeira island populationpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBD%2F31273%2F2006/PT
oaire.citation.issue1pt_PT
oaire.citation.startPage40pt_PT
oaire.citation.titleBiological Researchpt_PT
oaire.citation.volume47pt_PT
oaire.fundingStreamSFRH
person.familyNameda Silva Rosa
person.givenNamePatrícia Alexandra
person.identifier.ciencia-idF01B-3B5B-2269
person.identifier.orcid0000-0002-1827-6828
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
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relation.isAuthorOfPublication.latestForDiscoverycc0e7b32-45ac-4aad-9256-32bc9de21975
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