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HLA and age of onset in myasthenia gravis

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dc.contributor.authorSantos, Ernestina
dc.contributor.authorBettencourt, Andreia
dc.contributor.authorda Silva, Ana Martins
dc.contributor.authorBoleixa, Daniela
dc.contributor.authorLopes, Dina
dc.contributor.authorBrás, Sandra
dc.contributor.authorCosta, Paulo Pinho E.
dc.contributor.authorLopes, Carlos
dc.contributor.authorGonçalves, Guilherme
dc.contributor.authorLeite, Maria Isabel
dc.contributor.authorda Silva, Berta Martins
dc.date.accessioned2018-03-22T17:48:02Z
dc.date.available2018-03-22T17:48:02Z
dc.date.issued2017-07
dc.description.abstractThe aetiology of MG is unknown, but both genetic and environmental factors are important. Over the years association of MG with Human Leucocyte Antigens (HLA) has been described in different populations. We investigated a possible association between HLA-DRB1 alleles and age of onset in MG. One hundred and fourteen MG patients (82 females) and 282 control individuals (CP) were studied. Patients were classified according to the age of onset (early-onset <50, n = 74 and late-onset ≥ 50, n = 20). Patients with thymoma (n = 20) were analyzed separately. HLA-DRB1 and HLA-B*08 genotyping was performed using PCR-SSP methodology. HLA-DRB1*03 allele was overrepresented in the global MG. When the early-onset subgroup was considered, this association became even stronger. Regarding the late-onset subgroup, the frequency of HLA-DRB1*01 allele was higher than in the CP. For the thymoma subgroup, the HLA-DRB1*10 allele frequency was significantly higher when compared to the CP. These results have shown a strong association of HLA-DRB1*03 with MG, especially for EOMG also in our population. HLA-DRB1*01 was associated to LOMG suggesting that is a susceptibility factor for this subgroup of the disease. This study confirms a different genetic background of MG subgroups regarding age of onset.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationNeuromuscul Disord. 2017 Jul;27(7):650-654. doi: 10.1016/j.nmd.2017.04.002. Epub 2017 Apr 5.pt_PT
dc.identifier.doi10.1016/j.nmd.2017.04.002pt_PT
dc.identifier.issn0960-8966
dc.identifier.urihttp://hdl.handle.net/10400.18/5441
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.relation.publisherversionhttps://linkinghub.elsevier.com/retrieve/pii/S0960-8966(17)30060-3pt_PT
dc.subjectAdultpt_PT
dc.subjectAge of Onsetpt_PT
dc.subjectAgedpt_PT
dc.subjectAntibodiespt_PT
dc.subjectFemalept_PT
dc.subjectGenetic Association Studiespt_PT
dc.subjectGenotypept_PT
dc.subjectHLA-DQ beta-Chainspt_PT
dc.subjectHLA-DRB1 Chainspt_PT
dc.subjectHumanspt_PT
dc.subjectMalept_PT
dc.subjectMiddle Agedpt_PT
dc.subjectMyasthenia Gravispt_PT
dc.subjectReceptors, Cholinergicpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleHLA and age of onset in myasthenia gravispt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage654pt_PT
oaire.citation.issue7pt_PT
oaire.citation.startPage650-654pt_PT
oaire.citation.titleNeuromuscular Disorderspt_PT
oaire.citation.volume27pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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