Publicação
Immunogenetic predisposing factors for mesial temporal lobe epilepsy with hippocampal sclerosis
| dc.contributor.author | Leal, Bárbara | |
| dc.contributor.author | Chaves, João | |
| dc.contributor.author | Carvalho, Cláudia | |
| dc.contributor.author | Bettencourt, Andreia | |
| dc.contributor.author | Brito, Cláudia | |
| dc.contributor.author | Boleixa, Daniela | |
| dc.contributor.author | Freitas, Joel | |
| dc.contributor.author | Brás, Sandra | |
| dc.contributor.author | Lopes, João | |
| dc.contributor.author | Ramalheira, João | |
| dc.contributor.author | Costa, Paulo | |
| dc.contributor.author | Silva, Berta | |
| dc.contributor.author | Martins Da Silva, António | |
| dc.date.accessioned | 2019-03-21T11:33:24Z | |
| dc.date.available | 2019-03-21T11:33:24Z | |
| dc.date.issued | 2018-04 | |
| dc.description.abstract | Purpose: 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.sponsorship | This research was partially funded by a BICE Tecnifar Grant. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Int J Neurosci. 2018 Apr;128(4):305-310. doi: 10.1080/00207454.2017.1349122 | pt_PT |
| dc.identifier.doi | 10.1080/00207454.2017.1349122 | pt_PT |
| dc.identifier.issn | 0020-7454 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/6258 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Taylor & Francis | pt_PT |
| dc.relation.publisherversion | https://www.tandfonline.com/doi/abs/10.1080/00207454.2017.1349122?journalCode=ines20 | pt_PT |
| dc.subject | Adolescent | pt_PT |
| dc.subject | Adult | pt_PT |
| dc.subject | Aged | pt_PT |
| dc.subject | Case-Control Studies | pt_PT |
| dc.subject | Epilepsy, Temporal Lobe | pt_PT |
| dc.subject | Female | pt_PT |
| dc.subject | Genotype | pt_PT |
| dc.subject | HLA-DRB1 Chains | pt_PT |
| dc.subject | Hippocampus | pt_PT |
| dc.subject | Humans | pt_PT |
| dc.subject | Immunogenetics | pt_PT |
| dc.subject | Interleukin-1alpha | pt_PT |
| dc.subject | Male | pt_PT |
| dc.subject | Middle Aged | pt_PT |
| dc.subject | Polymorphism, Single Nucleotide | pt_PT |
| dc.subject | Sclerosis | pt_PT |
| dc.subject | Tumor Necrosis Factor-alpha | pt_PT |
| dc.subject | Young Adult | pt_PT |
| dc.subject | Causality | pt_PT |
| dc.subject | Determinantes da Saúde e da Doença | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.title | Immunogenetic predisposing factors for mesial temporal lobe epilepsy with hippocampal sclerosis | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 310 | pt_PT |
| oaire.citation.issue | 4 | pt_PT |
| oaire.citation.startPage | 305 | pt_PT |
| oaire.citation.title | International Journal of Neuroscience | pt_PT |
| oaire.citation.volume | 128 | pt_PT |
| person.familyName | Leal | |
| person.familyName | de Castro Pinho e Costa | |
| person.familyName | Silva | |
| person.familyName | Martins da Silva | |
| person.givenName | Bárbara | |
| person.givenName | Paulo Manuel | |
| person.givenName | Berta | |
| person.givenName | António | |
| person.identifier | B-4392-2008 | |
| person.identifier.ciencia-id | 1511-1F97-9455 | |
| person.identifier.ciencia-id | 6A17-F7BE-D4BC | |
| person.identifier.orcid | 0000-0003-0936-4719 | |
| person.identifier.orcid | 0000-0001-6125-7000 | |
| person.identifier.orcid | 0000-0001-6579-5068 | |
| person.identifier.orcid | 0000-0003-1364-5724 | |
| person.identifier.scopus-author-id | 35170382000 | |
| person.identifier.scopus-author-id | 14023271500 | |
| person.identifier.scopus-author-id | 56124425300 | |
| person.identifier.scopus-author-id | 6603590404 | |
| rcaap.embargofct | Política editorial da revista. | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | article | pt_PT |
| relation.isAuthorOfPublication | c0479ea5-0fe7-4e08-85c1-3703b33359b1 | |
| relation.isAuthorOfPublication | e7de4cb4-90e1-4815-9896-56ea697310f9 | |
| relation.isAuthorOfPublication | 10e207d1-75e8-4a55-a442-814a899652d7 | |
| relation.isAuthorOfPublication | 0f042a35-eff3-4325-bf3d-422d8c6be787 | |
| relation.isAuthorOfPublication.latestForDiscovery | e7de4cb4-90e1-4815-9896-56ea697310f9 |
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