回、汉族癫痫患者ABCB1基因C3435T多态性与癫痫耐药的相关性研究  

Association analysis of ABCB1-C3435T polymorphism and drug-resistant epilepsy in Hui and Han-nation epilepsy patients

作　　者：董通[1] 许贤瑞[2] 齐明山[1] 顾浩[1] 张庆[2] 

机构地区：[1]宁夏医科大学,宁夏银川750004 [2]宁夏医科大学附属医院神经内科,宁夏银川750004

出　　处：《中风与神经疾病杂志》2011年第3期237-241,共5页Journal of Apoplexy and Nervous Diseases

基　　金：宁夏自治区卫生厅重点科研项目(2009038);宁夏自然科学基金重点项目(NZ101127)

摘　　要：目的研究ABCB1基因C3435T的单核苷酸多态性在回、汉族癫痫人群中的分布特点;探讨回、汉族癫痫患者人群中ABCB1基因型对癫痫耐药的影响,进一步阐明癫痫耐药机制。方法收集宁夏地区回族癫痫耐药患者33例,回族药物敏感癫痫患者29例,汉族癫痫耐药患者62例,汉族药物敏感癫痫患者61例,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对入选患者的ABCB1基因C3435T位点进行基因分型,并随机抽取11%的基因分型样本进行直接测序证实。统计4组癫痫患者中C3435T的基因型、等位基因频率,分别用2χ等检验进行统计分析。结果回、汉族对照比较,回族癫痫患者中外显子26 C3435T位点基因型及等位基因频率与汉族癫痫患者均没有差异,(均P>0.05)。与药物敏感组比较,耐药组外显子26C3435T-CC基因型明显多于药物敏感组(P<0.001),而TT基因型则少于药物敏感组(P<0.001)。与药物敏感组比较,耐药组C等位基因频率高于药物敏感组,而T等位基因频率低于药物敏感组(P<0.001)。结论在中国回、汉族人群中均存在的ABCB1-C3435T位点基因多态性与癫痫耐药有关联,这一位点的基因多态性可以影响癫痫患者对抗癫痫药物(AEDs)的反应性。Objective To investigate the frequency of polymorphism at C3435T of ABCB1 in Hui and Han-nation epileptic patients and study the relationship between ABCB1 genotypes and drug-resistant epilepsy in epileptic patients in order to explore drug resistance mechanisms. Methods 33 Hui-nation patients with drug-resistant epilepsy and 29 Hui-nation drug responsive epilepsy patients and 62 Han-nation patients with drug-resistant epilepsy and 61 Han-nation drug responsive epilepsy patients were collected in the study. ABCB1-C3435T genotypes were detected using polymerase chain reaction restriction fragment length polymorphism（PCR-RFLP）with further validated. The frequency of genotypes and alleles between the four groups was compared by Chi-square test. Results By comparison between Hui and Han-nation, there were no significant differences both in the genotype frequency and allele frequency between Hui and Han groups（ both P 〉 0.05）. Compared with the drug-responsive group,the drug-resistant group were more likely to have the CC genotype than the TT genotype at exon 26 C3435T（ P 〈0.001 ）, but more less likely to have TT genotype than CC genotype（ P 〈 0. 001 ）. Compared with the drug-responsive group, the drug-resistant group were more likely to have the C allele than the T allele at exon 26 C3435T, but more less likely to have T genotype than C genotype （P 〈 0. 001 ）. Conclusions The ABCB1- C3435T were polymorphic in Chinese Hui and Han population, and there is no difference in two nations. Our study indicates C3435T polymorphism have relevance to drug-resistant epilepsy in Chinese population. The findings suggest that the polymorphism could affect response to antiepileptic drugs（AEDs） in epilepsy treatment.

关 键 词：抗癫痫药物(AEDs) 癫痫耐药 ABCB1-C3435T 基因型 

分 类 号：R742.1[医药卫生—神经病学与精神病学]