NTRK2 (TrkB gene) variants and temporal lobe epilepsy: A genetic association study

•The NTRK2 gene encodes a neurotrophic tyrosine kinase receptor family known as TrkB.•Polymorphisms of NTRK2 have been associated with neuropsychiatric disorders.•We studied NTRK2 variants in patients with temporal lobe epilepsy (TLE).•NTKR2 variants displayed association with epilepsy and some of e...

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Veröffentlicht in:Epilepsy research 2017-11, Vol.137, p.1-8
Hauptverfasser: Torres, Carolina Machado, Siebert, Marina, Bock, Hugo, Mota, Suelen Mandelli, Krammer, Bárbara Reis, Duarte, Juliana Ávila, Bragatti, José Augusto, Castan, Juliana Unis, de Castro, Luiza Amaral, Saraiva-Pereira, Maria Luiza, Bianchin, Marino Muxfeldt
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Sprache:eng
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Zusammenfassung:•The NTRK2 gene encodes a neurotrophic tyrosine kinase receptor family known as TrkB.•Polymorphisms of NTRK2 have been associated with neuropsychiatric disorders.•We studied NTRK2 variants in patients with temporal lobe epilepsy (TLE).•NTKR2 variants displayed association with epilepsy and some of epilepsy characteristics. 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. 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
ISSN:0920-1211
1872-6844
DOI:10.1016/j.eplepsyres.2017.08.010