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

Shi Yanrong; Shen Jin; Ding Tao; Dai Hong

doi:10.13407/j.cnki.jpp.1672.108X.2020.12.003

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

更新时间：2022-11-03

- Effects of SCN1A and SCN2A Gene Polymorphism on Efficacy of Sodium Valproate in Children with Epilepsy
- Vol. 26, Issue 12, Pages: 7-10(2020)
- 作者机构：
  
  上海交通大学医学院附属新华医院崇明分院,上海,202150
- 作者简介：
- 基金信息：
- DOI：10.13407/j.cnki.jpp.1672.108X.2020.12.003
  CLC：
- Published：2020，
  
  Published Online：10 December 2020，
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Shi Yanrong, Shen Jin, Ding Tao, et al. Effects of SCN1A and SCN2A Gene Polymorphism on Efficacy of Sodium Valproate in Children with Epilepsy. [J]. 26(12):7-10(2020)
DOI：

Shi Yanrong, Shen Jin, Ding Tao, et al. Effects of SCN1A and SCN2A Gene Polymorphism on Efficacy of Sodium Valproate in Children with Epilepsy. [J]. 26(12):7-10(2020) DOI： 10.13407/j.cnki.jpp.1672.108X.2020.12.003.

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。

Abstract

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

SCN1ASCN2A基因多态癫痫儿童丙戊酸钠血药浓度

Keywords

SCN1ASCN2Agene polymorphismepilepsychildrensodium valproateblood concentration

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