The analysis of two Brain-Derived Neurotrophic Factor polymorphisms <i>G196A</i> and <i>C270T</i> in epilepsy _Journal of Epilepsy

Authors：

XU Lianping ^1,2 , LI Chengyu ^1,2 ,  WANG Qun ^1,2

1. Department of Neurology, Beijing Tiantan Hospital，Capital Medical University, Beijing 100050, China;
2. China National Clinical Research Center for Neurological Diseases, Beijing 100050, China;

Corresponding author：

WANG Qun, Email: qwang64@163.com

Keywords：

Epilepsy; Polymorphism; Susceptibility gene

DOI：

10.7507/2096-0247.20180021

Video：

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ObjectiveTo investigate the relationship between the G196A and C270T polymorphism and epilepsy.MethodsDatabase including PubMed, EMbase, the Cochrane Library, CNKI and Wan fang data were retrieved upto September, 2017 to collect the case-control study concerning BDNF two polymorphisms G196A/C270T and epilepsy. Two reviewers independently screened the literature, extracted the data, and assessed the quality of methodology. Then Meta-analysis was performed using RevMan 5.2 software.Results①A total of 9 studies were included in the Meta-analysis between BDNF G196A and epilepsy. The studies included 1841 epilepsy patients and 6467 healthy control subjects. The G allele increase the risk of epilepsy[OR=1.13, 95%CI (1.06–1.21), P=0.0001]. When stratified by Asian and western subgroup, a similar trend of associated was detected with Asian epilepsy patients [OR=1.13, 95%CI (1.05–1.20), P=0.0004]. When stratified by epilepsy type, the G allele increase the risk of temporal lobe epilepsy [OR=1.18, 95%CI (1.04–1.34), P=0.008]. ② The Meta-analysis between BDNF C270T and epilepsy included 4 studies, 594 epilepsy patients and 738 healthy control subjects. The result suggested the frequency of the CT genotype and of the C270T T allele was not associated with epilepsy.ConclusionsBDNF G196A polymorphism is a susceptibility locus for temporal lobe epilepsy and Asian epilepsy patients.

Citation： XU Lianping, LI Chengyu, WANG Qun. The analysis of two Brain-Derived Neurotrophic Factor polymorphisms G196A and C270T in epilepsy . Journal of Epilepsy, 2018, 4(2): 98-105. doi: 10.7507/2096-0247.20180021 Copy

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2.	Lohoff F W, Ferraro TN, Dahl JP, et al. Lack of association between variations in the brain-derived neurotrophic factor (BDNF) gene and temporal lobe epilepsy. Epilepsy Res, 2005, 66(1-3): 59-62.
3.	Nectoux J, Bahi-Buisson N, Guellec I, et al. The p. Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome. Neurology, 2008, 70(22 Pt 2): 2145-2151.
4.	Louhivuori V, Arvio M, Soronen P, et al. The Val66Met polymorphism in the BDNF gene is associated with epilepsy in fragile X syndrome. Epilepsy Res, 2009, 85(1): 114-117.
5.	Bragatti JA, Schenkel LC, Torres CM, et al. No major clinical impact of Val66Met BDNF gene polymorphism on temporal lobe epilepsy. Epilepsy Res, 2010, 88(2-3): 108-111.
6.	Nissenkorn A, Gak E, Vecsler M, et al. Epilepsy in Rett syndrome-the experience of a national rett center. Epilepsia, 2010, 51(7): 1252-1258.
7.	Jia P, Ewers JM, Zhao Z. Prioritization of epilepsy associated candidate genes by convergent analysis. PLoS One, 2011, 6(2): e17162.
8.	Tondo M, Poo P, Naudo M, et al. Predisposition to epilepsy in fragile X syndrome: does the Val66Met polymorphismin the BDNF gene play a role?. Epilepsy Behav, 2011, 22(3): 581-583.
9.	Unalp A, Bora E, Cankaya T, et al. Lack of association of childhood partial epilepsy with brain derived neurotrophic factor gene. ScientificWorldJournal, 2012, 2012: 414797.
10.	Gkampeta A, Fidani L, Clarimon J, et al. Association of brain-derived neurotrophic factor (BDNF) and elongator protein complex 4(ELP4) polymorphisms with benign epilepsy with centrotemporal spikes in a greek population. Epilepsy Res, 2014, 108(10): 1734-1739.
11.	Sha'Ari HM, Haerian BS, Baum L, et al. Association of BDNF Polymorphisms with the risk of Epilepsy: a multicenter mtudy. Mol Neurobiol, 2016, 53(5): 2869-2877.
12.	Shen N, Zhu X, Lin H, et al. Role of BDNF Val66Met functional polymorphism in temporal lobe epilepsy. Int J Neurosci, 2016, 126(5): 436-441.
13.	曾宪涛,刘慧,陈曦冷,等. Meta 分析系列之四: 观察性研究的质量评价工具. 中国循证心血管医学杂志,2012,4(04): 297-299.
14.	Lipsky RH, Goldman D. Genomics and variation of ionotropic glutamate receptors. Ann N Y Acad Sci, 2003, 1003: 22-35.
15.	Chou IC, Tsai CH, Lee CC, et al. Brain-derived neurotrophic factor (BDNF) Val66Met polymorphisms in febrile seizures. Epilepsy Res, 2004, 60(1): 27-29.
16.	Kozisek ME, Middlemas D, Bylund DB. Brain-derived neurotrophic factor and its receptor tropomyosin-related kinase B in the mechanism of action of antidepressant therapies. Pharmacol Ther, 2008, 117(1): 30-51.
17.	Fritsch B, Reis J, Martinowich K, et al. Direct current stimulation promotes BDNF-dependent synaptic plasticity: potential implications for motor learning. Neuron, 2010, 66(2): 198-204.
18.	Karayannis T, AuE, Patel JC, et al. Cntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmission. Nature, 2014, 511(7508): 236-240.
19.	Eftekhari S, Mehrabi S, Karimzadeh F, et al. Brain derived neurotrophic factor modification of epileptiform burst discharges in a temporal lobe epilepsy model. Basic Clin Neurosci, 2016, 7(2): 115-120.
20.	Warburton A, Miyajima F, Shazadi K, et al.NRSF and BDNF polymorphisms as biomarkers of cognitive dysfunction in adults with newly diagnosed epilepsy. Epilepsy Behav, 2016, 54: 117-127.
21.	陈永香, 王静, 李风景, 等. 脑源性神经营养因子基因多态性与小儿癫痫的关联研究. 中华行为医学与脑科学杂志,2011, 20(10): 907-909.
22.	付伦姣, 罗成宏, 苏斌儒, 等. BDNF 基因多态性与颞叶癫痫患者的关联研究. 临床医学工程, 2014(07): 835-836.
23.	Chang Q, Khare G, Dani V, et al. The disease progression of mecp2 mutant mice is affected by the level of BDNF expression. Neuron, 2006, 49(3): 341-348.
24.	Croll SD, Suri C, Compton DL, et al. Brain-derived neurotrophic factor transgenic mice exhibit passive avoidance deficits, increased seizure severity and in vitro hyperexcitability in the hippocampus and entorhinal cortex. Neuroscience, 1999, 93(4): 1491-1506.
25.	Hariri AR, Goldberg TE, Mattay VS, et al. Brain-derived neurotrophic factor val66met polymorphism affects human memory-related hippocampal activity and predicts memory performance. J Neurosci, 2003, 23(17): 6690-6694.

1. Kanemoto K, Kawasaki J, Tarao Y, et al. Association of partial epilepsy with brain-derived neurotrophic factor (BDNF) gene polymorphisms. Epilepsy Res, 2003, 53(3): 255-258.
2. Lohoff F W, Ferraro TN, Dahl JP, et al. Lack of association between variations in the brain-derived neurotrophic factor (BDNF) gene and temporal lobe epilepsy. Epilepsy Res, 2005, 66(1-3): 59-62.
3. Nectoux J, Bahi-Buisson N, Guellec I, et al. The p. Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome. Neurology, 2008, 70(22 Pt 2): 2145-2151.
4. Louhivuori V, Arvio M, Soronen P, et al. The Val66Met polymorphism in the BDNF gene is associated with epilepsy in fragile X syndrome. Epilepsy Res, 2009, 85(1): 114-117.
5. Bragatti JA, Schenkel LC, Torres CM, et al. No major clinical impact of Val66Met BDNF gene polymorphism on temporal lobe epilepsy. Epilepsy Res, 2010, 88(2-3): 108-111.
6. Nissenkorn A, Gak E, Vecsler M, et al. Epilepsy in Rett syndrome-the experience of a national rett center. Epilepsia, 2010, 51(7): 1252-1258.
7. Jia P, Ewers JM, Zhao Z. Prioritization of epilepsy associated candidate genes by convergent analysis. PLoS One, 2011, 6(2): e17162.
8. Tondo M, Poo P, Naudo M, et al. Predisposition to epilepsy in fragile X syndrome: does the Val66Met polymorphismin the BDNF gene play a role?. Epilepsy Behav, 2011, 22(3): 581-583.
9. Unalp A, Bora E, Cankaya T, et al. Lack of association of childhood partial epilepsy with brain derived neurotrophic factor gene. ScientificWorldJournal, 2012, 2012: 414797.
10. Gkampeta A, Fidani L, Clarimon J, et al. Association of brain-derived neurotrophic factor (BDNF) and elongator protein complex 4(ELP4) polymorphisms with benign epilepsy with centrotemporal spikes in a greek population. Epilepsy Res, 2014, 108(10): 1734-1739.
11. Sha'Ari HM, Haerian BS, Baum L, et al. Association of BDNF Polymorphisms with the risk of Epilepsy: a multicenter mtudy. Mol Neurobiol, 2016, 53(5): 2869-2877.
12. Shen N, Zhu X, Lin H, et al. Role of BDNF Val66Met functional polymorphism in temporal lobe epilepsy. Int J Neurosci, 2016, 126(5): 436-441.
13. 曾宪涛,刘慧,陈曦冷,等. Meta 分析系列之四: 观察性研究的质量评价工具. 中国循证心血管医学杂志,2012,4(04): 297-299.
14. Lipsky RH, Goldman D. Genomics and variation of ionotropic glutamate receptors. Ann N Y Acad Sci, 2003, 1003: 22-35.
15. Chou IC, Tsai CH, Lee CC, et al. Brain-derived neurotrophic factor (BDNF) Val66Met polymorphisms in febrile seizures. Epilepsy Res, 2004, 60(1): 27-29.
16. Kozisek ME, Middlemas D, Bylund DB. Brain-derived neurotrophic factor and its receptor tropomyosin-related kinase B in the mechanism of action of antidepressant therapies. Pharmacol Ther, 2008, 117(1): 30-51.
17. Fritsch B, Reis J, Martinowich K, et al. Direct current stimulation promotes BDNF-dependent synaptic plasticity: potential implications for motor learning. Neuron, 2010, 66(2): 198-204.
18. Karayannis T, AuE, Patel JC, et al. Cntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmission. Nature, 2014, 511(7508): 236-240.
19. Eftekhari S, Mehrabi S, Karimzadeh F, et al. Brain derived neurotrophic factor modification of epileptiform burst discharges in a temporal lobe epilepsy model. Basic Clin Neurosci, 2016, 7(2): 115-120.
20. Warburton A, Miyajima F, Shazadi K, et al.NRSF and BDNF polymorphisms as biomarkers of cognitive dysfunction in adults with newly diagnosed epilepsy. Epilepsy Behav, 2016, 54: 117-127.
21. 陈永香, 王静, 李风景, 等. 脑源性神经营养因子基因多态性与小儿癫痫的关联研究. 中华行为医学与脑科学杂志,2011, 20(10): 907-909.
22. 付伦姣, 罗成宏, 苏斌儒, 等. BDNF 基因多态性与颞叶癫痫患者的关联研究. 临床医学工程, 2014(07): 835-836.
23. Chang Q, Khare G, Dani V, et al. The disease progression of mecp2 mutant mice is affected by the level of BDNF expression. Neuron, 2006, 49(3): 341-348.
24. Croll SD, Suri C, Compton DL, et al. Brain-derived neurotrophic factor transgenic mice exhibit passive avoidance deficits, increased seizure severity and in vitro hyperexcitability in the hippocampus and entorhinal cortex. Neuroscience, 1999, 93(4): 1491-1506.
25. Hariri AR, Goldberg TE, Mattay VS, et al. Brain-derived neurotrophic factor val66met polymorphism affects human memory-related hippocampal activity and predicts memory performance. J Neurosci, 2003, 23(17): 6690-6694.

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