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Characterization of the major histocompatibility complex locus association with Behçet’s disease in Iran

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dc.contributor.authorXavier, Joana M
dc.contributor.authorDavatchi, Fereydoun
dc.contributor.authorAbade, Olga
dc.contributor.authorShahram, Farhad
dc.contributor.authorFrancisco, Vânia
dc.contributor.authorAbdollahi, Bahar Sadeghi
dc.contributor.authorTrindade, Hélder
dc.contributor.authorNadji, Abdolhadi
dc.contributor.authorShafiee, Niloofar Mojarad
dc.contributor.authorGhaderibarmi, Fahmida
dc.contributor.authorLigeiro, Dário
dc.contributor.authorOliveira, Sofia A
dc.date.accessioned2022-05-26T16:23:51Z
dc.date.available2022-05-26T16:23:51Z
dc.date.issued2015
dc.description© 2015 Xavier et al.; licensee BioMed Central. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.pt_PT
dc.description.abstractIntroduction: The aim of this study was to characterize the association of human leukocyte antigen (HLA) B alleles and major histocompatibility complex (MHC) single nucleotide polymorphisms (SNPs) with Behçet's disease (BD) in an Iranian dataset. Methods: The association of three SNPs in the MHC region previously identified as the most associated in high-density genotyping studies was tested in a case-control study on 973 BD patients and 825 controls from Iran, and the association of HLA-B alleles was tested in a subset of 681 patients and 414 controls. Results: We found that HLA-B*51 (P = 4.11 × 10(-41), OR [95% CI] = 4.63[3.66-5.85]) and B*15 confer risk for BD (P = 2.83 × 10(-2), OR [95% CI] = 1.75[1.08-2.84]) in Iranian, and in B*51 negative individuals, only the B*15 allele is significantly associated with BD (P = 2.51 × 10(-3), OR [95% CI] = 2.40[1.37-4.20]). rs76546355, formerly known as rs116799036, located between HLA-B and MICA (MHC class I polypeptide-related sequence A), demonstrated the same level of association with BD as HLA-B*51 (P adj = 1.78 × 10(-46), OR [95% CI] = 5.46[4.21-7.09], and P adj = 8.34 × 10(-48), OR [95% CI] = 5.44[4.20-7.05], respectively) in the HLA-B allelotyped subset, while rs2848713 was less associated (P adj = 7.14 × 10(-35), OR [95% CI] = 3.73[2.97-4.69]) and rs9260997 was not associated (P adj = 1.00 × 10(-1)). Additionally, we found that B*51 genotype-phenotype correlations do not survive Bonferroni correction, while carriers of the rs76546355 risk allele predominate in BD cases with genital ulcers, positive pathergy test and positive BD family history (2.31 × 10(-4) ≤ P ≤ 1.59 × 10(-3)). Conclusions: We found that the HLA-B*51 allele and the rs76546355/rs116799036 MHC SNP are independent genetic risk factors for BD in Iranian, and that positivity for the rs76546355/rs116799036 risk allele, but not for B*51, does correlate with specific demographic characteristics or clinical manifestations in BD patients.pt_PT
dc.description.sponsorshipThis work was supported by the Portuguese Fundação para a Ciência e a Tecnologia (grants PTDC/SAU-GMG/098937/2008, PTDC/IIM-GES/5015/2012 and CMUP-ERI/TPE/0028/2013, fellowships SFRH/BD/43895/2008 to JMX, SFRH/BPD/35737/2007 to PA, SFRH/BPD/70008/2010 to IS, a Ciência and an Investigator-FCT contract to SAO), and the Research Committee of the Tehran University of Medical Sciences (grant 132/714).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationArthritis Res Ther. 2015 Mar 19;17(1):81pt_PT
dc.identifier.doi10.1186/s13075-015-0585-6pt_PT
dc.identifier.eissn1478-6362
dc.identifier.issn1478-6354
dc.identifier.urihttp://hdl.handle.net/10451/53195
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringer Naturept_PT
dc.relationPatients as Health Care Innovators: An Empirical Investigation of Treatment, Therapies and Medical Devices (TT&MD) developed by Patients of Chronic Diseases
dc.relationIDENTIFICATION OF GENETIC RISK FACTORS FOR BEHÇETS DISEASE
dc.relationGENETICS OF INTRACRANIAL ANEURYSMS: FROM ANIMAL MODEL TO HUMANS
dc.relationGENETICS AND GENOMICS OF PRIMARY SPONTANEOUS PNEUMOTHORAX
dc.relation.publisherversionhttps://arthritis-research.biomedcentral.com/pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.titleCharacterization of the major histocompatibility complex locus association with Behçet’s disease in Iranpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitlePatients as Health Care Innovators: An Empirical Investigation of Treatment, Therapies and Medical Devices (TT&MD) developed by Patients of Chronic Diseases
oaire.awardTitleIDENTIFICATION OF GENETIC RISK FACTORS FOR BEHÇETS DISEASE
oaire.awardTitleGENETICS OF INTRACRANIAL ANEURYSMS: FROM ANIMAL MODEL TO HUMANS
oaire.awardTitleGENETICS AND GENOMICS OF PRIMARY SPONTANEOUS PNEUMOTHORAX
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FSAU-GMG%2F098937%2F2008/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FIIM-GES%2F5015%2F2012/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/5665-PICT/CMUP-ERI%2FTPE%2F0028%2F2013/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/PIDDAC/SFRH%2FBD%2F43895%2F2008/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT//SFRH%2FBPD%2F35737%2F2007/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/OE/SFRH%2FBPD%2F70008%2F2010/PT
oaire.citation.issue1pt_PT
oaire.citation.titleArthritis Research & Therapypt_PT
oaire.citation.volume17pt_PT
oaire.fundingStream3599-PPCDT
oaire.fundingStream3599-PPCDT
oaire.fundingStream5665-PICT
oaire.fundingStreamPIDDAC
oaire.fundingStreamOE
person.familyNameM Xavier
person.familyNameFrancisco
person.givenNameJoana
person.givenNameVânia
person.identifier.ciencia-idEE13-176A-5613
person.identifier.orcid0000-0002-0702-6700
person.identifier.orcid0000-0003-0428-4525
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
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