SCN1A、SCN2A基因多态性对癫痫儿童丙戊酸钠治疗效果的影响研究

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。

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

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.