KCNMA1单核苷酸多态与托吡酯治疗癫痫患儿疗效的相关性分析
Correlation analysis of KCNMA1 single nucleotide polymorphism with the efficacy of topiramate in the treatment of epileptic children
李艳阳 1徐晨阳 2高永涛2
作者信息
- 1. 河南大学淮河医院儿科,河南开封 475000
- 2. 河南大学淮河医院神经外科,河南开封 475000
- 折叠
摘要
目的:探讨高导钙和电压依赖K+(BK)钾通道的α-亚基(KCNMA1)单核苷酸多态与托吡酯治疗癫痫患儿疗效的相关性.方法:纳入2017年1月至2022年1月河南大学淮河医院收治的癫痫患儿746例,一代测序检测癫痫患儿KCNMA1的基因序列.根据序列,对照组为KCNMA1野生型患儿,突变组为KCNMA1突变型患儿,A138V组为A138V突变患儿,C495G组为C495G突变患儿,N599D组为N599D突变患儿.托吡酯治疗后,分析不同组患儿碱性磷酸酶(ALP)和血钙(SC)水平、疗效及不良反应的差异.结果:746例癫痫患儿中,KCNMA1野生型有660例,突变型有86例.KCNMA1 A138V、C495G、N599D及R800W的频率分别为4.96％、2.95％、1.74％、1.88％.与对照组比较,突变组的治疗有效率更低,差异有统计学意义(P＜0.05).与对照组比较,C495G组的治疗有效率更低(P＜0.05).托吡酯治疗后,与对照组比较,突变组患儿ALP水平更高(P＜0.05).托吡酯治疗后,对照组和突变组患儿SC水平的差异无统计学意义.托吡酯治疗后,与对照组比较,C495G组和R800W组患儿的ALP水平均更高(P＜0.05).与对照组相比,突变组患儿具有更高的不良反应发生率.与对照组相比,A138V组和C495G组患儿具有更高的不良反应发生率.结论:KCNMA1单核苷酸多态C495G和R800W与托吡酯疗效具有相关性,A138V和C495G与托吡酯带来的不良反应具有相关性.
Abstract
OBJECTIVE To explore the correlation between KCNMA1 single nucleotide polymorphism and the efficacy of topiramate in the treatment of epileptic children.METHODS From January 2017 to January 2022,a total of 746 epileptic chil-dren were recruited.According to the gene sequence of KCNMA1,they were assigned into two groups of control(n=660)and mutant(n=86).Control group was composed of KCNMA1 wild-type children while mutant group KCNMA1 mutant children.There were mutations of A138V,C495G and N599D.After topiramate dosing,the inter-group differences of alkaline phospha-tase(ALP)and blood calcium(SC)levels,efficacy and adverse reactions were examined.RESULTS The frequencies of KCNMA1 A138V,C495G,N599D and R800W were 4.96％,2.95％,1.74％and 1.88％respectively.As compared with con-trol group,effective rate of mutant group was lower(P＜0.05).As compared with control group,effective rate of C495G group was lower(P＜0.05).After topiramate dosing,ALP level was higher in mutant group than that in control group and the differ-ence was statistically significant.After topiramate dosing,no significant inter-group difference existed in SC level.After topira-mate dosing,ALP level was higher in C495G/R800W group than that in control group(P＜0.05).As compared with control group,mutation group had a higher incidence of adverse reactions and the difference was statistically significant(P＜0.05).As compared with control group,A138V and C495G groups had a higher incidence of adverse reactions(P＜0.05).CONCLUSION KCNMA1 single nucleotide polymorphism C495G and R800W are correlated with a definite efficacy of topira-mate.And A138V and C495G are correlated with the adverse reactions caused by topiramate.
关键词
KCNMA1/单核苷酸多态/托吡酯/癫痫Key words
KCNMA1/mononucleotide polymorphism/topiramate/epilepsy引用本文复制引用
基金项目
河南省科学技术厅项目(232102310356)
出版年
2024
NETL
NSTL
万方数据