论文部分内容阅读
目的观察多药耐药基因ABCB1多态性在癫患者中的分布特点,并探讨其与癫耐药的相关性。方法采用流行病学方法收集正规服用抗癫药(AEDs)且依从性好的癫患者852例(癫组),分析其临床特点;同期选取相同地区的非癫者1 003例为对照(对照组)。癫组再分为耐药亚组(671例,服用3种或3种以上AEDs,癫发作次数在随访前1年仍≥1次)和控制亚组(181例,AEDs治疗,随访前1年无癫发作)。利用Mass ARRAY时间飞行质谱技术检测癫组和对照组ABCB1基因C3435T、G2677T/A和C1236T位点的单核苷酸多态性(SNPs)。应用分子流行病学方法,与对照组比较,分析ABCB1基因多态性在癫患者中的分布特点及对AEDs疗效的关系。结果对耐药亚组、控制亚组和对照组进行ABCB1基因多态性检测发现3组的SNPs均服从Hardy-Weinberg遗传平衡。癫组与对照组ABCB1基因C3435T、G2677T/A和C1236T位点的SNPs基因型分布差异无显著性(P>0.05);耐药亚组和控制亚组3个位点SNPs基因型分布差异无显著性(P>0.05)。单体型分析显示癫组和对照组、耐药亚组和控制亚组3个位点SNPs组成的常见单体型分布差异无显著性(P>0.05)。耐药相关的多因素Logistic回归分析未发现ABCB1基因C3435T、G2677T/A和C1236T位点SNPs与耐药有统计学意义(P>0.05)。结论未发现ABCB1基因C3435T,G2677T/A和C1236T位点多态性与AEDs耐药有相关性。
Objective To observe the distribution of multidrug resistance gene ABCB1 polymorphism in epilepsy patients and to explore its relationship with epilepsy drug resistance. Methods 852 epilepsy patients (epilepsy group) who took anti-epileptic drugs (AEDs) regularly and with good compliance were collected by epidemiological method. The clinical features were analyzed. In the same period, 1 003 non-epileptic patients Control (control group). The epilepsy group was subdivided into drug resistant subgroups (671 patients, taking 3 or more AEDs, and the number of epileptic seizures still ≥1 times 1 year prior to follow-up) and control subgroup (181 patients treated with AEDs before follow-up 1 year epileptic seizures). Single nucleotide polymorphisms (SNPs) of C3435T, G2677T / A and C1236T of ABCB1 gene in epilepsy group and control group were detected by Mass ARRAY time-of-flight mass spectrometry. Using molecular epidemiology, compared with the control group, the distribution of ABCB1 gene polymorphism in patients with epilepsy and its relationship with the efficacy of AEDs were analyzed. Results ABCB1 gene polymorphism was detected in drug-resistant subgroup, control subgroup and control group. All three SNPs obey Hardy-Weinberg genetic balance. There were no significant differences in SNPs genotype distribution between ABCB1 gene C3435T, G2677T / A and C1236T loci in epilepsy group and control group (P> 0.05). There was no significant difference in SNPs genotype distribution among the three drug resistance and control subgroups Significance (P> 0.05). Haplotype analysis showed no significant difference in the haplotype distributions of SNPs in epilepsy group, control group, drug resistance subgroup and control subgroup (P> 0.05). Logistic regression analysis showed that there was no significant difference in SNPs and drug resistance of ABCB1 gene C3435T, G2677T / A and C1236T (P> 0.05). Conclusion The polymorphisms of C3435T, G2677T / A and C1236T of ABCB1 gene were not found to be correlated with AEDs resistance.