SCN1A、SCN2A基因多态性对癫痫儿童丙戊酸钠治疗效果的影响  

Effects of SCN1A and SCN2A Gene Polymorphism on Efficacy of Sodium Valproate in Children with Epilepsy

作　　者：施燕蓉[1] 沈瑾[1] 丁焘[1] 戴红[1] Shi Yanrong;Shen Jin;Ding Tao;Dai Hong(Chongming Branch of Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine,Shanghai 202150,China)

机构地区：[1]上海交通大学医学院附属新华医院崇明分院,上海202150

出　　处：《儿科药学杂志》2020年第12期7-10,共4页Journal of Pediatric Pharmacy

基　　金：上海市卫计委面上项目,编号201540054。

摘　　要：目的:分析SCN1A、SCN2A基因多态性对丙戊酸钠治疗癫痫患儿的疗效影响。方法:采用PCR和Sanger测序法检测128例丙戊酸钠规范治疗的癫痫患儿(有效组76例、无效组52例)外周血SCN1A(rs10188577、rs2298771、rs3812718、rs1813502)、SCN2A(rs2304016、rs17183814)多态性。采用非条件Logistic回归分析基因型、等位基因频率与丙戊酸钠疗效的关系,分析不同基因型患者丙戊酸钠血药浓度的差异。结果:SCN1A基因rs3812718位点多态性与丙戊酸钠治疗效果有关。携带GA和AA基因型的患者采用丙戊酸钠治疗有效(GG vs GA:OR=1.186,95%CI 0.965~2.304,P=0.015;GG vs AA:OR=1.252,95%CI 1.007~3.254,P=0.002)。有效组SCN1A基因rs3812718位点A等位基因频率明显高于无效组(OR=1.452,95%CI 1.052~2.695,P=0.010)。其余基因位点组间比较差异均无统计学意义(P>0.05)。结论:SCN1A基因rs3812718位点多态性可能与丙戊酸钠抗癫痫效应有关。Objective:To analyze the effects of SCN1A and SCN2A gene polymorphism on efficacy of sodium valproate in children with epilepsy.Methods:SCN1A(rs10188577,rs2298771,rs3812718,rs1813502)and SCN2A(rs2304016,rs17183814)polymorphisms of 128 children with epilepsy(76 cases in the effective group and 52 cases in the ineffective group)were detected by PCR and Sanger sequencing.Correlation between genotype,allele frequency and efficacy of sodium valproate was analyzed by unconditional Logistic regression,and the difference of blood drug concentration of sodium valproate in patients with different genotypes was analyzed.Results:SCN1A gene rs3812718 polymorphism was related to the therapeutic effects of sodium valproate.Patients with GA and AA genotypes were effectively treated with sodium valproate(GG vs GA:OR=1.186,95%CI:from 0.965 to 2.304,P=0.015;GG vs AA:OR=1.252,95%CI:from 1.007 to 3.254,P=0.002).The frequency of A allele at rs3812718 of SCN1A gene in the effective group was significantly higher than that in the ineffective group(OR=1.452,95%CI:from 1.052 to 2.695,P=0.010).There was no statistically significant difference between the other gene loci groups(P>0.05).Conclusion:The rs3812718 polymorphism of SCN1A gene may be related to the antiepileptic effect of sodium valproate.

关 键 词：SCN1A SCN2A 基因多态 癫痫 儿童 丙戊酸钠 血药浓度 

分 类 号：R742.1[医药卫生—神经病学与精神病学]