Logo do repositório
 
Publicação

Immunogenetic predisposing factors for mesial temporal lobe epilepsy with hippocampal sclerosis

dc.contributor.authorLeal, Bárbara
dc.contributor.authorChaves, João
dc.contributor.authorCarvalho, Cláudia
dc.contributor.authorBettencourt, Andreia
dc.contributor.authorBrito, Cláudia
dc.contributor.authorBoleixa, Daniela
dc.contributor.authorFreitas, Joel
dc.contributor.authorBrás, Sandra
dc.contributor.authorLopes, João
dc.contributor.authorRamalheira, João
dc.contributor.authorCosta, Paulo
dc.contributor.authorSilva, Berta
dc.contributor.authorMartins Da Silva, António
dc.date.accessioned2019-03-21T11:33:24Z
dc.date.available2019-03-21T11:33:24Z
dc.date.issued2018-04
dc.description.abstractPurpose: Neuroinflammation appears as an important epileptogenic mechanism. Experimental and clinical studies have demonstrated an upregulation of pro-inflammatory cytokines such as IL-1β and TNF-α, in mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS). Expression of these cytokines can be modulated by polymorphisms such as rs16944 and rs1800629, respectively, both of which have been associated with febrile seizures (FS) and MTLE-HS development. The human leukocyte antigen (HLA) system has also been implicated in diverse epileptic entities, suggesting a variable role of this system in epilepsy. Our aim was to analyse the association between immunogenetic factors and MTLE-HS development. For that rs16944 (-511 T>C, IL-1β), rs1800629 (-308 G>A, TNF-α) polymorphisms and HLA-DRB1 locus were genotyped in a Portuguese Population. Methods: We studied 196 MTLE-HS patients (108 females, 88 males, 44.7 ± 12.0 years, age of onset = 13.6 ± 10.3 years, 104 with FS antecedents) and 282 healthy controls in a case–control study. Results: The frequency of rs16944 TT genotype was higher in MTLE-HS patients compared to controls (14.9% in MTLE-HS vs. 7.7% in controls, p = 0.021, OR [95% CI] = 2.20 [1.13–4.30]). This association was independent of FS antecedents. No association was observed between rs1800629 genotypes or HLA-DRB1 alleles and MTLE-HS susceptibility. Also, no correlation was observed between the studied polymorphisms and disease age of onset. Conclusion: The rs16944 TT genotype is associated with MTLE-HS development what may be explained by the higher IL-1β levels produced by this genotype. High IL-1β levels may have neurotoxic effects or imbalance neurotransmission leading to seizures.pt_PT
dc.description.sponsorshipThis research was partially funded by a BICE Tecnifar Grant.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationInt J Neurosci. 2018 Apr;128(4):305-310. doi: 10.1080/00207454.2017.1349122pt_PT
dc.identifier.doi10.1080/00207454.2017.1349122pt_PT
dc.identifier.issn0020-7454
dc.identifier.urihttp://hdl.handle.net/10400.18/6258
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherTaylor & Francispt_PT
dc.relation.publisherversionhttps://www.tandfonline.com/doi/abs/10.1080/00207454.2017.1349122?journalCode=ines20pt_PT
dc.subjectAdolescentpt_PT
dc.subjectAdultpt_PT
dc.subjectAgedpt_PT
dc.subjectCase-Control Studiespt_PT
dc.subjectEpilepsy, Temporal Lobept_PT
dc.subjectFemalept_PT
dc.subjectGenotypept_PT
dc.subjectHLA-DRB1 Chainspt_PT
dc.subjectHippocampuspt_PT
dc.subjectHumanspt_PT
dc.subjectImmunogeneticspt_PT
dc.subjectInterleukin-1alphapt_PT
dc.subjectMalept_PT
dc.subjectMiddle Agedpt_PT
dc.subjectPolymorphism, Single Nucleotidept_PT
dc.subjectSclerosispt_PT
dc.subjectTumor Necrosis Factor-alphapt_PT
dc.subjectYoung Adultpt_PT
dc.subjectCausalitypt_PT
dc.subjectDeterminantes da Saúde e da Doençapt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleImmunogenetic predisposing factors for mesial temporal lobe epilepsy with hippocampal sclerosispt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage310pt_PT
oaire.citation.issue4pt_PT
oaire.citation.startPage305pt_PT
oaire.citation.titleInternational Journal of Neurosciencept_PT
oaire.citation.volume128pt_PT
person.familyNameLeal
person.familyNamede Castro Pinho e Costa
person.familyNameSilva
person.familyNameMartins da Silva
person.givenNameBárbara
person.givenNamePaulo Manuel
person.givenNameBerta
person.givenNameAntónio
person.identifierB-4392-2008
person.identifier.ciencia-id1511-1F97-9455
person.identifier.ciencia-id6A17-F7BE-D4BC
person.identifier.orcid0000-0003-0936-4719
person.identifier.orcid0000-0001-6125-7000
person.identifier.orcid0000-0001-6579-5068
person.identifier.orcid0000-0003-1364-5724
person.identifier.scopus-author-id35170382000
person.identifier.scopus-author-id14023271500
person.identifier.scopus-author-id56124425300
person.identifier.scopus-author-id6603590404
rcaap.embargofctPolítica editorial da revista.pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationc0479ea5-0fe7-4e08-85c1-3703b33359b1
relation.isAuthorOfPublicatione7de4cb4-90e1-4815-9896-56ea697310f9
relation.isAuthorOfPublication10e207d1-75e8-4a55-a442-814a899652d7
relation.isAuthorOfPublication0f042a35-eff3-4325-bf3d-422d8c6be787
relation.isAuthorOfPublication.latestForDiscoverye7de4cb4-90e1-4815-9896-56ea697310f9

Ficheiros

Principais
A mostrar 1 - 1 de 1
Miniatura indisponível
Nome:
Leal 2018 - Immunogenetic predisposing factors for mesial temporal lobe epilepsy with hippocampal sclerosis.pdf
Tamanho:
588.31 KB
Formato:
Adobe Portable Document Format
Licença
A mostrar 1 - 1 de 1
Miniatura indisponível
Nome:
license.txt
Tamanho:
1.71 KB
Formato:
Item-specific license agreed upon to submission
Descrição: