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目的 探讨CYP2C 19基因多态性对苯妥英钠治疗癫痫疗效的影响.方法 选取2009年1月至2010年6月在本院神经内科住院治疗的癫痫患者150例为研究对象,均口服苯妥英钠进行治疗.利用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法检测CYP2C 19基因型,使用高效液相色谱法(HPLC)检测苯妥英钠的血药浓度,探讨苯妥英钠治疗疗效与CYP2C19基因多态性的关系.结果 150例患者中,苯妥英钠治疗有效患者CYP2C19基因型CYP2C19*2/*2、CYP2C 19*3/*3、CYP2C19*2/*3分别为44例、7例、1例,苯妥英钠治疗无效患者CYP2C 19基因型CYP2C 19*2/*2、CYP2C19*3/*3、CYP2C19*2/*3分别为1例、1例、96例,组间比较差异有统计学意义(P＜0.05).苯妥英钠治疗有效患者中,各基因型患者血药浓度比较差异无统计学意义(P＞0.05).结论 CYP2C19基因多态性与苯妥英钠的疗效有关.

Objective To evaluate the effect of CYP2C19 polymorphisms on the phenytoin in the treatment of epilepsy.Methods A total of 150 epileptic patients treated with oral phenytoin in the Department of Neurology of our hospital between January 2009 and June 2010 were included in the study.Genotyping of CYP2C19 polymorphisms was examined by PCR-restriction fragment length polymorphism (RFLP).High performance liquid chromatography (HPLC) was performed to detect the plasma concentrations of phenytoin in the patients.The relationship between CYP2C19 polymorphisms and the patient response to phenytoin was evaluated.Results Of the 150 patients,those who responsed to the phenytoin treatment were 44 cases of CYP2C19*2/*2,7 of CYP2C19*3/*3 and 1 of CYP2C19*2/*3,while those without response were 1 case of CYP2C19*2/*2,1 of CYP2C19*3/*3,and 96 of CYP2C19*2/*3.There was a statistical difference in the intergroup comparison (P＜0.05).In patients who responded to phenytoin treatment,there was no significant difference in plasma concentration of phenytoin among genotypes (P＞0.05).Conclusion CYP2C19 polymorphism is associated with patient response to phenytoin.