NTRK2 (TrkB gene) variants and temporal lobe epilepsy: A genetic association study
| Autor: | Bárbara Reis Krammer, Marino Muxfeldt Bianchin, Suelen Mandelli Mota, Luiza Amaral de Castro, Maria Luiza Saraiva-Pereira, Carolina Machado Torres, Marina Siebert, Hugo Bock, Juliana Unis Castan, José Augusto Bragatti, Juliana Ávila Duarte |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Oncology Adult Male medicine.medical_specialty Drug Resistant Epilepsy Genotyping Techniques Neuroimaging Tropomyosin receptor kinase B Epileptogenesis Polymorphism Single Nucleotide White People Temporal lobe 03 medical and health sciences Epilepsy 0302 clinical medicine Internal medicine Statistical significance Genotype medicine Humans Receptor trkB Allele Age of Onset Genetic Association Studies Genetic association Membrane Glycoproteins business.industry Brain Electroencephalography medicine.disease 030104 developmental biology Phenotype Neurology Epilepsy Temporal Lobe Anesthesia Case-Control Studies Female Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | Epilepsy research. 137 |
| ISSN: | 1872-6844 |
| Popis: | Objective The NTRK2 gene encodes a member of the neurotrophic tyrosine kinase receptor family known as TrkB. It is a membrane-associated receptor with signaling and cellular differentiation properties that has been involved in neuropsychiatric disorders, including epilepsy. We report here the frequencies of NTRK2 allele variants in patients with temporal lobe epilepsy (TLE) compared to controls without epilepsy and explore the impact of these polymorphisms on major clinical variables in TLE. Methods A case-control study comparing the frequencies of the NTRK2 gene polymorphisms beween 198 TLE Caucasian patients and 200 matching controls without epilepsy. In a second step, the impact of allelic variation on major clinical and electroencephalographic epilepsy variables was evaluated in the group of TLE patients. The following polymorphisms were determined by testing different regions of the NTRK2 gene: rs1867283, rs10868235, rs1147198, rs11140800, rs1187286, rs2289656, rs1624327, rs1443445, rs3780645, and rs2378672. To correct for multiple correlations the level of significance was set at p Results Patients with TLE showed a statistical trend for increase of the T/T genotype in rs10868235 compared to control (O.R. = 1.90; 95%CI = 1.17–3.09; p = 0.01). Homozygous patients for the A allele in rs1443445 had earlier mean age at onset of seizures, p = 0.009 (mean age of 16.6 versus 22.4 years). We also observed that the T allele in rs3780645 was more frequent in patients who needed polytheraphy for seizure control than in patients on monotherapy, (O.R. = 4.13; 95%CI = 1.68–10.29; p = 0.001). This finding may reflect an increased difficulty to obtain seizure control in this group of patients. No additional differences were observed in this study. Conclusions Patients with epilepsy showed a trend for a difference in rs10868235 allelic distribution compared to controls without epilepsy. NTRK2 variability influenced age at seizure onset and the pharmacological response to seizure control. As far as we know, this is the first study showing an association between NTKR2 allelic variants in human epilepsy. We believe that further studies in this venue will shade some light on the molecular mechanisms involved in epileptogenesis and in the clinical characteristics of epilepsy. |
| Databáze: | OpenAIRE |
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