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首页> 外文期刊>Journal of the Neurological Sciences: Official Bulletin of the World Federation of Neurology >Absence of association between major vault protein (MVP) gene polymorphisms and drug resistance in Chinese Han patients with partial epilepsy
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Absence of association between major vault protein (MVP) gene polymorphisms and drug resistance in Chinese Han patients with partial epilepsy

机译:缺乏主要穹窿蛋白(MVP)基因多态性和患有部分癫痫患者患者的耐药性和耐药性

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摘要

Drug resistance in epilepsy is common despite many antiepileptic drugs (AEDs) available for treatment The development of drug resistant epilepsy may be a result of multiple factors. Several previous studies reported that the major vault protein (MVP) was significantly increased in epileptogenic brain tissues resected from patients with partial-onset seizures, indicating the possible involvement of MVP in drug resistance. In this article, we aimed to identify the association between single nucleotide polymorphisms (SNPs) of MVP gene and drug resistance of partial epilepsy in a Chinese Han population. A total of 510 patients with partial-onset seizures and 206 healthy controls were recruited. Among the patients, 222 were drug resistant and 288 were responsive. The selection of tagging SNPs was based on the Hapmap database and Haploview software and the genotyping was conducted on the Sequenom MassARRAY iPLEX platform. For the selected loci rs12149746, rs9938630 and rs4788186 in the MVP gene, there was no significant difference in allele or genotype distribution between the drug resistant and responsive groups, or between all of the patients and healthy controls. Linkage disequilibrium between any two loci was detected but there was no significant difference in haplotype frequency between the drug resistant and responsive groups. Our results suggest that MVP genetic polymorphisms and haplotypes may not be associated with drug resistance of partial epilepsy in the Chinese Han population. (C) 2015 Elsevier B.V. All rights reserved.
机译:癫痫中的耐药性仍是常见的,尽管有许多可用于治疗的抗癫痫药物(AED),毒性癫痫的发育可能是多种因素的结果。以前的几项研究报告说,从部分发作癫痫发作的患者切除癫痫脑组织中,主要拱顶蛋白(MVP)显着增加,表明MVP可能参与耐药性。在本文中,我们旨在鉴定在中国汉族人群中,鉴定MVP基因的单核苷酸多态性(SNPS)与部分癫痫的耐药性。招募了共有510名患有部分发作癫痫发作和206例健康对照。在患者中,222例耐药,288次响应。标记SNP的选择基于HAPMAP数据库和HAPLOView软件,并在亮片Massarray IPLEX平台上进行基因分型。对于所选择的基因座Rs12149746,RS9938630和RS4788186在MVP基因中,耐药和应对基团之间的等位基因或基因型分布没有显着差异,或在所有患者和健康对照之间。检测到任何两个基因座之间的连接不平衡,但耐药和反应组之间的单倍型频率没有显着差异。我们的研究结果表明,MVP遗传多态性和单倍型可能与中国汉族人群中部分癫痫的耐药性无关。 (c)2015 Elsevier B.v.保留所有权利。

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