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儿童部分性癫痫与脑源性神经营养因子基因无关联。

Lack of association of childhood partial epilepsy with brain derived neurotrophic factor gene.

作者信息

Unalp Aycan, Bora Elcin, Cankaya Tufan, Giray Bozkaya Ozlem, Ercal Derya, Ozturk Aysel, Ulgenalp Ayfer

机构信息

Dr Behcet Uz Child Disease and Pediatric Surgery Training and Research Hospital, Montro, Izmir, Turkey.

出版信息

ScientificWorldJournal. 2012;2012:414797. doi: 10.1100/2012/414797. Epub 2012 May 1.

Abstract

Brain-derived factor (BDNF) is a member of neurotrophin family and is localized and upregulated in areas implicated in epileptogenesis. Several lines of evidence make the BDNF gene a plausible candidate gene for predisposition to epilepsy. In this study, we tested that BDNF might be involved in the etiology of childhood PE. To assess whether BDNF gene C270T polimorphism could be implicated in vulnerability to PE, we conducted a case-control association analysis (112 partial epileptic and 100 controls) in Turkish children. Epileptic children were divided into two groups: 1--idiopathic (n = 85) and 2--symptomathic epilepsy (n = 27). There was no significant difference in genotypic distribution and allelic frequencies of the BDNF gene C270T polimorphism between the PE and control groups. However, the BDNF gene TT genotype was more frequently seen in the epileptic children (15 versus 11 patients, resp.). Interestingly, in the epilepsy group, both two children with TT genotype have posttraumatic epilepsy. The data indicate a possible association with the 270T genotype of the BDNF gene with a posttraumatic epilepsy. To draw any conclusion, further studies using larger sample sizes should be carried out in various ethnic populations in childhood epilepsies.

摘要

脑源性神经营养因子(BDNF)是神经营养因子家族的成员,定位于癫痫发生相关区域且表达上调。多项证据表明BDNF基因可能是癫痫易感性的候选基因。在本研究中,我们检测了BDNF可能参与儿童期PE的病因。为评估BDNF基因C270T多态性是否与PE易感性有关,我们在土耳其儿童中进行了病例对照关联分析(112例部分性癫痫患儿和100例对照)。癫痫患儿分为两组:1——特发性(n = 85)和2——症状性癫痫(n = 27)。PE组和对照组之间BDNF基因C270T多态性的基因型分布和等位基因频率无显著差异。然而,癫痫患儿中BDNF基因TT基因型更为常见(分别为15例和11例患者)。有趣的是,在癫痫组中,两名TT基因型患儿均有创伤后癫痫。数据表明BDNF基因的270T基因型可能与创伤后癫痫有关。为得出任何结论,应在不同种族人群的儿童癫痫中使用更大样本量进行进一步研究。

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