Significant association of &lt;em&gt;BDNF&lt;/em&gt; rs6265 G&amp;gt;A polymorphism with susceptibility to epilepsy: a meta-analysis

Xu, Yuelong; Li, Xiu-Xiu; Zhuang, Sujing; Guo, Shi-Feng; Xiang, Jianping; Wang, Long; Zhou, Lan; Wu, Bin

doi:10.2147/ndt.s154927

Cited by 8 publications

(6 citation statements)

References 44 publications

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“…A high amount of BDNF exists in the brain tissue of patients with intractable temporal lobe epilepsy ( Binder et al, 2001 ). Several studies have investigated the association between BDNF gene variation and epilepsy ( Kanemoto et al, 2003 ; Xu et al, 2018 ). BDNF and NTRK2 are found to be correlated with ADORA2A, which are involved in neuroprotective signaling.…”

Section: Discussionmentioning

confidence: 99%

Genetic Polymorphism of ADORA2A Is Associated With the Risk of Epilepsy and Predisposition to Neurologic Comorbidity in Chinese Southern Children

Fan

Chen

et al. 2020

Front. Neurosci.

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Epilepsy, a common disorder of the brain, exhibits a high morbidity rate in children. Childhood epilepsy (CE) is frequently comorbid with neurologic and developmental disorders, sharing underlying genetic factors. This study aimed to investigate the impact of ADORA2A , BDNF , and NTRK2 gene polymorphisms on the risk of childhood epilepsy and their associations with predisposition to epileptic comorbidities. A total of 444 children were enrolled in this study, and three single nucleotide polymorphisms, including ADORA2A rs2298383, BDNF rs6265, and NTRK2 rs1778929, were genotyped. The frequency distribution of genotypes was compared not only between CE patients and healthy children but also between CE patients with and without comorbidities. The results indicated that the carriers of ADORA2A rs2298383 TT genotype tended to have a lower risk of epilepsy (OR = 0.48, 95% CI = 0.30–0.76), while the CT genotype was related to a higher risk (OR = 1.56, 95% CI = 1.06–2.27). The ADORA2A rs2298383 CC genotype predisposed CE patients to comorbid neurologic disorders (OR = 2.76, 95% CI = 1.31–5.80). Genetic variations in BDNF rs6265 and NTRK2 rs1778929 had no significant association with CE and its comorbidities. Fourteen ADORA2A target genes related to epilepsy were identified by the protein–protein interaction analysis, which were mainly involved in the biological processes of “negative regulation of neuron death” and “purine nucleoside biosynthetic process” through the gene functional enrichment analysis. Our study revealed that the genetic polymorphism of ADORA2A rs2298383 was associated with CE risk and predisposition to neurologic comorbidity in children with epilepsy, and the involved mechanism might be related to the regulation of neuron death and purine nucleoside biosynthesis.

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Section: Discussionmentioning

confidence: 99%

Genetic Polymorphism of ADORA2A Is Associated With the Risk of Epilepsy and Predisposition to Neurologic Comorbidity in Chinese Southern Children

Fan

Chen

et al. 2020

Front. Neurosci.

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“…Показано, что полиморфизм rs6265 гена BDNF может быть связан с эпилептогенезом, а аллель А играет защитную роль в развитии эпилепсии [31]. Также выявлено, что полиморфизм rs6265 гена BDNF связан с развитием эпилепсии, в большей степени у азиатского населения [32]. По результатам нашего исследования выявлено, что носительство генотипа GA rs6265 гена BDNF прогностически неблагоприятно связано с развитием ВЭ с ГС, что согласуется с исследованиями N. Shen и соавт.…”

Section: Frequency Of Carriage Of the Genotypes Rs16944 Rs1143634 Rs1...unclassified

Study of the role of carriage of single nucleotide variants of the IL-1β, TNFA, BDNF, NTRK-2 genes in the development and clinical features of temporal lobe epilepsy

Panina

Domoratskaya

Paramonova

et al. 2022

RJTAO

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Temporal lobe epilepsy (TE) is the most common form of focal epilepsy in adults with a high rate of drug-resistant course. In the Russian Federation studies of the contribution of the carriage of single nucleotide variants of genes (SNGs) encoding proteins of neuroinflammation and neurodegeneration to the development of TE have not been previously carried out.Objective: to study the association of SNGs rs16944 and rs1143634 of the IL-1β gene, rs1800629 of the TNFA gene, rs6265 of the BDNF gene, rs3780645 of the NTRK-2 gene with the risk of development, clinical and neuroimaging features of TE.Patients and methods. The study included 166 patients with TE and 203 healthy volunteers living in the Siberian Federal District. The study included clinical, neurophysiological, neuroradiological, and laboratory work-up. Investigation of the carriage of SNGs rs16944 (-511T/C) and rs1143634 (+3954C/T) of the IL-1β gene, rs1800629 (G-308A) of the TNFA gene, rs6265 (G/A) of the BDNF gene, rs3780645 (C/T) and rs2289656 (C/T) of the NTRK-2 gene was carried out by real-time polymerase chain reaction. Results and discussion. The prognostically unfavorable role of carriage of the A allele and the GA rs1800629 genotype of the TNFA gene in the development of TE, the GA rs6265 genotype of the BDNF gene in the development of TE with hippocampal sclerosis was established. Carrying the genotype AA rs1800629 of the TNFA gene in patients with TE reduces the risk of polytherapy with antiepileptic drugs.Conclusion. The study of neuroinflammation and neurodegeneration processes is important both from a physiological point of view and from the point of view of searching for the TE development markers, which make it possible to predict and evaluate the rate of disease progression, help to determine the tactics of treatment, and evaluate its effectiveness. In this regard, at present, the identification of potential genetic markers remains a task of high priority.

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“…Xu и соавт. [28] показано, что рассматриваемый ОНП связан с раз-витием эпилепсии, но в работах, включавших пациентов с височной эпилепсией [29] и гиппокампальным склерозом, не обнаружено ассоциации между носительством аллелей G и A (rs6265) и клиническими маркерами заболевания [30]. По нашим данным, носители ОНП rs6265 гена BDNF не имели статистически значимых различий со здоровыми лицами (контроль).…”

Section: ч а с т о т а н о с и т е л ь с т в а он п R S 1 1 4 3 6 3 4unclassified

Association of the carriage of IL-1B rs1143634 and rs16944 polymorphisms and BDNF rs6265 polymorphism with temporal lobe epilepsy

Panina

Дмитренко

Шнайдер

et al. 2019

RJTAO

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Височная эпилепсия-одна из наиболее распространенных и рефрактерных форм эпилепсии, имеющая различную этиологию. По данным экспериментальных и клинических исследований, трансформация нормального паттерна активности нейронов головного мозга в пароксизмальный сопровождается изменениями экспрессии цитокинов и нейротрофинов в гиппокампе и височной коре. Модуляция экспрессии нейрофического фактора мозга (Brain-Derived Neurotrophic Factor, BDNF) может быть связана с носительством однонуклеотидного полиморфизма (ОНП) rs6265 гена BDNF. Группами исследователей показана повышенная экспрессия BDNF в гиппокампе и височной коре у пациентов с фармакорезистентными формами эпилепсии. В независимых исследованиях продемонстрирована роль гена IL1B, кодирующего провоспалительный цитокин интерлейкин (ИЛ) 1β , в развитии воспалительных реакций и структурной медиобазальной височной эпилепсии с гиппокампальным склерозом. Цель исследования-изучение ассоциации носительства ОНП rs16944 и rs1143634 гена IL1B и rs6265 гена BDNF с развитием височной эпилепсии. Пациенты и методы. Проведено молекулярно-генетическое исследование носительства ОНП rs1143634 и rs16944 гена IL1B и rs6265 гена BDNF с помощью полимеразной цепной реакции в режиме реального времени у 84 пациентов с височной эпилепсией и 203 здоровых добровольцев европейского происхождения, проживающих в Сибирском федеральном округе.

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Significant association of <em>BDNF</em> rs6265 G>A polymorphism with susceptibility to epilepsy: a meta-analysis

Cited by 8 publications

References 44 publications

Genetic Polymorphism of ADORA2A Is Associated With the Risk of Epilepsy and Predisposition to Neurologic Comorbidity in Chinese Southern Children

Genetic Polymorphism of ADORA2A Is Associated With the Risk of Epilepsy and Predisposition to Neurologic Comorbidity in Chinese Southern Children

Study of the role of carriage of single nucleotide variants of the IL-1β, TNFA, BDNF, NTRK-2 genes in the development and clinical features of temporal lobe epilepsy

Association of the carriage of IL-1B rs1143634 and rs16944 polymorphisms and BDNF rs6265 polymorphism with temporal lobe epilepsy

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