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Human leucocyte antigens class II allele and haplotype association with Type 1 Diabetes in Madeira Island (Portugal)

2017Journal article Restricted access
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dc.contributor.authorSpínola, H.
dc.contributor.authorLemos, A.
dc.contributor.authorCouto, A. R.
dc.contributor.authorParreira, A.
dc.contributor.authorSoares, M.
dc.contributor.authorDutra, I.
dc.contributor.authorBruges-Armas, J.
dc.contributor.authorBrehm, A.
dc.contributor.authorAbreu, S.
dc.date.accessioned2018-11-12T11:13:28Z
dc.date.available2018-11-12T11:13:28Z
dc.date.issued2017
dc.description.abstractThis study confirms for Madeira Island (Portugal) population the Type 1 Diabetes (T1D) susceptible and protective Human leucocyte antigens (HLA) markers previously reported in other populations and adds some local specificities. Among the strongest T1D HLA associations, stands out, as susceptible, the alleles DRB1*04:05 (OR = 7.3), DQB1*03:02 (OR = 6.1) and DQA1*03:03 (OR = 4.5), as well as the haplotypes DRB1*04:05- DQA1*03:03- DQB1*03:02 (OR = 100.9) and DRB1*04:04- DQA1*03:01- DQB1*03:02 (OR = 22.1), and DQB1*06:02 (OR = 0.07) and DRB1*15:01- DQA1*01:02- DQB1*06:02 (OR = 0.04) as protective. HLA- DQA1 positive for Arginine at position 52 (Arg52) (OR = 15.2) and HLA- DQB1 negative for Aspartic acid at the position 57 (Asp57) (OR = 9.0) alleles appear to be important genetic markers for T1D susceptibility, with higher odds ratio values than any single allele and than most of the haplotypes. Genotypes generated by the association of markers Arg52 DQA1 positive and Asp57 DQB1 negative increase T1D susceptibility much more than one would expected by a simple additive effect of those markers separately (OR = 26.9). This study also confirms an increased risk for DRB1*04/DRB1*03 heterozygote genotypes (OR = 16.8) and also a DRB1*04- DQA1*03:01- DQB1*03:02 haplotype susceptibility dependent on the DRB1*04 allele (DRB1*04:01, OR = 7.9; DRB1*04:02, OR = 3.2; DRB1*04:04, OR = 22.1).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationSpínola, H., Lemos, A., Couto, A. R., Parreira, B., Soares, M., Dutra, I., ... & Abreu, S. (2017). Human leucocyte antigens class II allele and haplotype association with Type 1 Diabetes in Madeira Island (Portugal). International Journal of Immunogenetics, 44(6), 305-313.pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.13/2154
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWileypt_PT
dc.relationASSOCIAÇÃO DOS GENES HLA À DIABETES TIPO 1, DOENÇA CORONÁRIA E ASMA NO ARQUIPÉLAGO DA MADEIRA
dc.subjectHLA‐DQA1pt_PT
dc.subjectHLA-DQB1pt_PT
dc.subjectMadeira Island (Portugal)pt_PT
dc.subjectPortugalpt_PT
dc.subjectType 1 diabetespt_PT
dc.subject.
dc.subjectEscola Superior de Tecnologias e Gestão
dc.titleHuman leucocyte antigens class II allele and haplotype association with Type 1 Diabetes in Madeira Island (Portugal)pt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleASSOCIAÇÃO DOS GENES HLA À DIABETES TIPO 1, DOENÇA CORONÁRIA E ASMA NO ARQUIPÉLAGO DA MADEIRA
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/PIDDAC/SFRH%2FBD%2F32171%2F2006/PT
oaire.citation.endPage313pt_PT
oaire.citation.startPage305pt_PT
oaire.citation.titleInternational Journal of Immunogeneticspt_PT
oaire.citation.volume44(6)pt_PT
oaire.fundingStreamPIDDAC
person.familyNameSpínola
person.familyNameCouto
person.familyNameArmas
person.familyNameBrehm
person.givenNameHélder
person.givenNameAna Rita
person.givenNameJacome
person.givenNameAntonio
person.identifier2027940
person.identifier682991
person.identifier.ciencia-idFF1A-6A4C-75C9
person.identifier.ciencia-id8413-FBC3-5584
person.identifier.ciencia-id3613-8D1F-0EDF
person.identifier.orcid0000-0002-6455-1595
person.identifier.orcid0000-0002-3600-2812
person.identifier.orcid0000-0001-7671-6521
person.identifier.orcid0000-0003-3168-5340
person.identifier.scopus-author-id10242534600
person.identifier.scopus-author-id7005046279
person.identifier.scopus-author-id55931428200
person.identifier.scopus-author-idAuthor ID 7006085833
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsrestrictedAccesspt_PT
rcaap.typearticlept_PT
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