探讨GABAARG2基因在癫痫耐药机制中的作用

Association study between the C588T polymorphism of GABAARG2 gene and drug-resistant epilepsy

目的探讨癫痫患者中GABAARG2基因与耐药性癫痫的关系。方法选择来本院就诊的98例癫痫患者,根据对抗癫痫药物的反应性分为耐药组(观察组)46例和敏感组(对照组)52例进行研究,提取所有患者的DNA,采用PCR基因测序鉴定GABAARG2基因出现的概率,对每一位受试者以口服传统的抗癫痫药物-苯妥英(phenytoin)方式来对比两组患者的药物口服吸收率。结果观察组和对照组之间的年龄、性别、既往病史、持续状态方面差异均无统计学意义(P>0.05)。观察组出现GABAARG2基因的概率显着高于对照组,差异具有统计学意义(χ~2=8.08,P=0.01);观察组的总体口服吸收率(68.71%±12.28%)明显低于对照组的口服吸收率(82.36%±15.31%),差异具有统计学意义(χ~2=6.78,P=0.01)。结论 GABAARG2基因的在脑内的出现会影响抗癫痫药物的效果,进而引起患者的耐药性,对临床治疗有较好的参考价值。

Objective To investigate the relationship between GABAARG2 gene and drug-resistant epilepsy in patients with epilepsy. Methods According to the reactivity of the anti epileptic drugs,98 patients with epilepsy were divided into two groups： drug-resistant group（ observation group） and sensitive group（ control group）,there were 46 patients in the observation group and 52 patients in the control group. DNA of all patients was extracted and the probability of occurrence of GABAARG2 gene was determined by PCR gene sequencing. For each subject,oral antiepileptic drug phenytoin（ Phenytoin） was taken to compare the oral absorption rate of drugs of two groups of patients. Results There was no significant difference in age,sex,past history and status of persistent disease between observation group and control group（ P〉0. 05）. But the probability of GABAARG2 gene in the observation group was significantly higher than that in the control group,the difference was statistically significant（ χ~2= 8. 08,P = 0. 01）. The total oral absorption rate of the observation group（ 68. 71% ± 12. 28%） was significantly lower than that of the control group（ 82. 36% ± 15. 31%）,the difference was statistically significant（ χ~2= 6. 78,P = 0. 01）. Conclusion GABAARG2 gene expression in the brain will affect the effect of antiepileptic drugs,it has good reference value for drug resistance in patients.