| 王 薇,刘 康,陈 芳,王丽辉,李 鑫,孙素真.癫痫患儿SCN1A、MDR1 G2677TA、ABCB1 C3435T基因多态性与左乙拉西坦治疗效果的关系及疗效的影响因素分析[J].,2022,(11):2191-2196 |
| 癫痫患儿SCN1A、MDR1 G2677TA、ABCB1 C3435T基因多态性与左乙拉西坦治疗效果的关系及疗效的影响因素分析 |
| Relationship between SCN1A, MDR1 G2677TA, ABCB1 C3435T Gene Polymorphism and Treatment Effect of Levetiracetam in Children with Epilepsy and Analysis of Influencing Factors of Curative Effect |
| 投稿时间：2021-12-23 修订日期：2022-01-19 |
| DOI：10.13241/j.cnki.pmb.2022.11.038 |
| 中文关键词: 癫痫 基因多态性 左乙拉西坦 临床疗效 影响因素 |
| 英文关键词: Epilepsia Gene polymorphism Levetiracetam Clinical efficacy Influence factor |
| 基金项目:河北省重点研发计划自筹项目（182777181） |
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| 中文摘要: |
| 摘要 目的：探讨癫痫患儿SCN1A、MDR1 G2677TA、ABCB1 C3435T基因多态性与左乙拉西坦（LEV）治疗效果的关系及疗效的影响因素。方法：选择2019年6月至2021年7月在本院接受LEV治疗的癫痫患儿226例为研究对象，分析所有患儿基因型和等位基因分布情况；治疗3个月后根据治疗效果分为有效组和无效组，分析两组患儿SCN1A、MDR1 G2677TA、ABCB1 C3435T基因型及等位基因频率分布；采用单因素及多因素Logistic回归分析法分析影响临床疗效的因素。结果：癫痫患儿SCN1A rs4667869、SCN1A rs10497275、MDR1 G2677TA、ABCB1 C3435T基因型及等位基因分布频率有统计学差异（P＜0.05）。有效组SCN1A rs4667869的基因型GG、GC及等位基因G分布频率高于无效组（P＜0.05），基因型CC及等位基因C分布频率低于无效组（P＜0.05）；有效组SCN1A rs10497275的基因型GA及等位基因G高于无效组（P＜0.05），基因型AA及等位基因A分布频率低于无效组（P＜0.05）；有效组MDR1 G2677TA的基因型GT、TT及等位基因T高于无效组（P＜0.05），基因型GG、AA及等位基因G分布频率低于无效组（P＜0.05）；有效组ABCB1 C3435T的基因型CC、CT及等位基因C分布频率高于无效组（P＜0.05），基因型TT及等位基因T分布频率低于无效组（P＜0.05）。单因素分析显示，月发作频率和出生窒息史与LEV治疗癫痫患儿疗效有关。多因素Logistic回归分析显示，SCN1A rs4667869、SCN1A rs10497275、MDR1 G2677TA和ABCB1 C3435T基因型及等位基因、出生窒息史是LEV治疗癫痫患儿疗效的影响因素。结论：癫痫患儿SCN1A、MDR1 G2677TA和ABCB1 C3435T基因多态性与LEV治疗效果有关，其多种基因型是LEV治疗效果的影响因素。 |
| 英文摘要: |
| ABSTRACT Objective: To explore the relationship between SCN1A, MDR1 G2677TA, ABCB1 C3435T gene polymorphisms and the treatment effect of levetiracetam (LEV) in children with epilepsy and the influencing factors of curative effect. Methods: 226 children with epilepsy who received LEV treatment in our hospital from June 2019 to July 2021 were selected as the research objects, and the genotype and allele distribution of all children were analyzed. 3 months after treatment, they were divided into effective group and ineffective group according to the treatment effect. The genotypes and allele frequencies of SCN1A, MDR1 G2677TA, ABCB1 C3435T in the two groups were analyzed. Univariate and multivariate Logistic regression analysis were used to analyze the factors affecting the clinical efficacy. Results: There were significant differences in genotype and allele distribution frequencies of SCN1A rs4667869, SCN1A rs10497275, MDR1 G2677TA, ABCB1 C3435T in children with epilepsy(P＜0.05). The distribution frequencies of genotype GG, GC and allele G of SCN1A rs4667869 in the effective group were higher than those in ineffective group(P＜0.05), and the distribution frequencies of genotype CC and allele C were lower than those in ineffective group(P＜0.05). The genotype GA and allele G of SCN1A rs10497275 in the effective group were higher than those in the ineffective group (P＜0.05), and the distribution frequencies of genotype AA and allele A in the effective group were lower than those in the ineffective group(P＜0.05). The genotype GT, TT and allele T of MDR1 G2677TA in the effective group were higher than those in the ineffective group(P＜0.05), and the distribution frequencies of genotype GG, AA and allele G in the effective group were lower than those in the ineffective group(P＜0.05). The distribution frequencies of genotype CC, CT and allele C of ABCB1 C3435T in the effective group were higher than those in the ineffective group(P＜0.05), and the distribution frequencies of genotype TT and allele T were lower than those in the ineffective group(P＜0.05). Univariate analysis showed that monthly seizure frequency and birth asphyxia history were related to the efficacy of LEV treatment of children with epilepsy. Multivariate Logistic regression analysis showed that the genotypes and allele of SCN1A rs4667869, SCN1A rs10497275, MDR1 g2677ta and ABCB1 C3435T and the birth asphyxia history were the influencing factors of the efficacy of LEV treatment of children with epilepsy. Conclusion: SCN1A, MDR1 G2677TA and ABCB1 C3435T gene polymorphisms in children with epilepsy are related to the therapeutic effect of LEV, and their multiple genotypes are the influencing factors of the therapeutic effect of LEV. |
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