Relationship Between AS3MT Gene Polymorphism and Clinical Features,Therapeutic Effects in Children with Epilepsy
Objective To explore the relationship between Arsenic(+3 oxidation state)methyltransferase(AS3MT)gene polymorphism and clinical features,therapeutic effects in children with epilepsy.Methods A total of 164 children with epilepsy admitted to author's hospital from July 2019 to July 2022 were selected as the epilepsy group,and 210 healthy children were selected as the healthy group.The epilepsy group was regularly treated with sodium valproate for more than 6 months,and the patients were divided into effective group(n=129)and ineffective group(n=35)ac-cording to the different therapeutic effects.Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)was used to identify the genotype of AS3MT rs7085104;Hardy-Weinberg genetic equilibrium test was used to evaluate the representativeness of the samples;univariate and multivariate Logistic regression analysis were used to explore the influencing factors of therapeutic effects in children with epilepsy.Results The three genotypes of AS3MT rs7085104 AA,GA and GG in the healthy group and the epilepsy group were in accordance with the Hardy-Weinberg ge-netic equilibrium law(P＞0.05).The genotype frequencies of AS3MT rs7085104 AA,GA and GG were 31.10％,48.17％and 20.73％in the epilepsy group,and 15.71％,38.10％and 46.19％in the healthy group respectively,and there were significant differences between the two groups(P＜0.05).The AA and GA genotype of AS3MT rs7085104 in children with seizures frequency＞3 times per month,history of birth asphyxia and history of febrile seizures was higher than that in children with seizures frequency≤3times per month,no history of birth asphyxia and no history of febrile seizures respectively,and the distribution frequency of GG genotype was significantly lower than that of children with seizures frequency ≤3 times per month,no history of birth asphyxia and no history of febrile seizures(P＜0.05).The genotype frequencies of AS3MT rs7085104 AA,GA and GG were 24.81％,52.71％and 22.48％in the ef-fective group,and 54.29％,31.43％and 14.28％in the ineffective group respectively,the difference between the two groups was statistically significant(P＜0.05).Multivariate Logistic regression analysis showed that the frequency of sei-zures＞3 times per month[OR=2.776,95％confidence interval(CI):1.751-4.440],history of febrile seizures(OR=2.375,95％CI:1.555-3.627),AS3MT rs7085104 GA genotype(GA vs.AA,OR=0.397,95％CI:0.257-0.612),AS3MT rs7085104 GG genotype(GG vs.AA,OR=0.322,95％CI:0.200-0.518)were influencing factors of ineffective treatment in children with epilepsy(P＜0.05).Conclusion AS3MT rs7085104 gene polymorphism was asso-ciated with monthly seizure frequency,history of birth asphyxia and history of febrile seizures in children with epilepsy,which affects the therapeutic effects of sodium valproate,and the therapeutic effects is worse in children with AA geno-type.
NETL
NSTL
万方数据
