Zhou Luo, Zhang Mengqi, Long Hongyu, Long Lili, Xie Yuanyuan, Liu Zhaoqian, Kang Jin, Chen Qihua, Feng Li, Xiao Bo
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China.
Institute of Clinical Pharmacology, Central South University, Changsha, Hunan 410008, P.R. China.
J Neurol Sci. 2015 Nov 15;358(1-2):362-6. doi: 10.1016/j.jns.2015.09.363. Epub 2015 Sep 25.
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.
尽管有多种抗癫痫药物（AEDs）可用于治疗，但癫痫中的耐药现象仍很常见。耐药性癫痫的发生可能是多种因素导致的。此前的多项研究报道，在部分发作性癫痫患者切除的致痫脑组织中，主要穹窿蛋白（MVP）显著增加，这表明MVP可能与耐药性有关。在本文中，我们旨在确定中国汉族人群中MVP基因单核苷酸多态性（SNPs）与部分性癫痫耐药性之间的关联。共招募了510例部分发作性癫痫患者和206名健康对照者。在患者中，222例耐药，288例敏感。标签SNPs的选择基于Hapmap数据库和Haploview软件，并在Sequenom MassARRAY iPLEX平台上进行基因分型。对于MVP基因中选定的位点rs12149746、rs9938630和rs4788186，耐药组与敏感组之间，以及所有患者与健康对照者之间，等位基因或基因型分布均无显著差异。检测到任意两个位点之间存在连锁不平衡，但耐药组与敏感组之间单倍型频率无显著差异。我们的结果表明，在中国汉族人群中，MVP基因多态性和单倍型可能与部分性癫痫的耐药性无关。
