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Immunogenetic protective factors in Genetic Generalized Epilepsy

2020-10Journal article Restricted access
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dc.contributor.authorChaves, João
dc.contributor.authorMartins-Ferreira, Ricardo
dc.contributor.authorFerreira, Ana Marta
dc.contributor.authorBrás, Sandra
dc.contributor.authorCarvalho, Cláudia
dc.contributor.authorBettencourt, Andreia
dc.contributor.authorSamões, Raquel
dc.contributor.authorMonteiro, Fábio
dc.contributor.authorFreitas, Joel
dc.contributor.authorChorão, Rui
dc.contributor.authorLopes, João
dc.contributor.authorRamalheira, João
dc.contributor.authorSilva, Berta
dc.contributor.authorCosta, Paulo
dc.contributor.authorMartins Da Silva, António
dc.contributor.authorLeal, Bárbara
dc.date.accessioned2021-03-26T11:44:06Z
dc.date.available2021-03-26T11:44:06Z
dc.date.issued2020-10
dc.description.abstractBackground: Genetic Generalized Epilepsies (GGEs) are a heterogeneous group of syndromes characterized by generalized seizure activity that affects both hemispheres, with mainly genetic causes. Neuroinflammation has been established as an important mechanism in epileptogenesis. The ability to develop an appropriated immune response is strongly determined by immunogenetic factors. In this setting, our aim was to evaluate potential associations between GGEs and immunogenetic factors. Methods: The rs16944 (IL-1β -511 T > C) polymorphism and the HLA-DRB1 locus were genotyped in a Portuguese GGE population. Association with two clinicopathological features, photosensitivity and refractoriness, was investigated. This case-control study included 323 GGE patients (187 F, 136 M, 34.0 ± 13.9 years of age), 145 of which with JME diagnosis (88 F, 57 M, 34.1 ± 14.0 years), and 282 healthy controls (174 F, 108 M, 37.7 ± 11.6 years). Results: Decreased frequencies of the HLA-DRB1*09 and DRB1*13 alleles were observed in the GGE population. HLA-DRB1*07 frequency was increased in JME. Rs16944 allelic frequencies were similar between patients and controls. Conclusions: These results, not entirely consistent with previous reports, suggest that HLA molecules may have a complex role in epileptogenesis.pt_PT
dc.description.abstractHighlights: HLA-DRB1*09 and HLA-DRB1*13 alleles are protective factors for GGE; HLA-DRB1*07 allele is a susceptibility factor for JME; HLA molecules may have a complex role in epileptogenesis.pt_PT
dc.description.sponsorshipThis research was partially funded by a BICE Tecnifar Grant. The funders had no role in study design, data collection and analysis or preparation of the manuscript. Ricardo Martins-Ferreira is funded by Doctoral fellowship SFRH/ BD/137900/2018 from Fundação para a Ciência e Tecnologia (FCT).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationEpilepsy Res. 2020 Oct;166:106396. doi: 10.1016/j.eplepsyres.2020.106396. Epub 2020 Jun 16pt_PT
dc.identifier.doi10.1016/j.eplepsyres.2020.106396pt_PT
dc.identifier.issn0920-1211
dc.identifier.urihttp://hdl.handle.net/10400.18/7604
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.relationEpigenetic regulation of signalling pathways in MTLE-HS and its impact on epileptogenesis
dc.relation.publisherversionhttps://www.sciencedirect.com/science/article/abs/pii/S0920121120302369?via%3Dihubpt_PT
dc.subjectEpilepsypt_PT
dc.subjectGenetic Generalized Epilepsiespt_PT
dc.subjectInflammationpt_PT
dc.subjectGenetic Susceptibilitypt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleImmunogenetic protective factors in Genetic Generalized Epilepsypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleEpigenetic regulation of signalling pathways in MTLE-HS and its impact on epileptogenesis
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/POR_NORTE/SFRH%2FBD%2F137900%2F2018/PT
oaire.citation.startPage106396pt_PT
oaire.citation.titleEpilepsy Researchpt_PT
oaire.citation.volume166pt_PT
oaire.fundingStreamPOR_NORTE
person.familyNameChaves
person.familyNameSilva
person.familyNamede Castro Pinho e Costa
person.familyNameMartins da Silva
person.familyNameLeal
person.givenNameJoão
person.givenNameBerta
person.givenNamePaulo Manuel
person.givenNameAntónio
person.givenNameBárbara
person.identifierB-4392-2008
person.identifier.ciencia-idE211-03FB-612F
person.identifier.ciencia-id6A17-F7BE-D4BC
person.identifier.ciencia-id1511-1F97-9455
person.identifier.orcid0000-0001-6579-5068
person.identifier.orcid0000-0001-6125-7000
person.identifier.orcid0000-0003-1364-5724
person.identifier.orcid0000-0003-0936-4719
person.identifier.scopus-author-id56124425300
person.identifier.scopus-author-id14023271500
person.identifier.scopus-author-id6603590404
person.identifier.scopus-author-id35170382000
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.embargofctAcesso de acordo com página web do editor da revista.pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT
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