摘要
目的探讨局灶性癫痫患儿神经调节蛋白1(NRG-1)基因rs35753505位点多态性及血清NRG-1水平变化的意义。方法选取101例局灶性癫痫患儿为癫痫组、101例健康儿童为对照组,根据疗效将癫痫患儿分为有效组(n=71)和无效组(n=30)。用聚合酶链反应和连接酶链反应检测NRG-1基因rs35753505位点多态性,用酶联免疫吸附试验检测血清NRG-1。用多因素Logistic回归模型分析血清NRG-1水平对ASM疗效的影响。结果癫痫组CC基因型、等位C基因频率高于对照组(P均<0.05),血清NRG-1水平低于对照组(P<0.05)。CC基因型局灶性癫痫患病风险较TT(OR=1.658,95%CI:1.506~1.957)、CT(OR=1.404,95%CI:1.205~1.733)基因型高(P均<0.05);C等位基因局灶性癫痫患病风险较T等位基因高(OR=1.872,95%CI:1.643~2.892,P<0.05)。无效组CC基因型、等位C基因频率高于有效组(P均<0.05),血清NRG-1水平低于有效组(P<0.05)。CC基因型ASM无效风险较TT(OR=1.358,95%CI:1.106~1.537)、CT(OR=1.274,95%CI:1.075~1.465)基因型高(P均<0.05),C等位基因ASM无效风险较T等位基因高(OR=1.572,95%CI:1.465~1.432,P<0.05)。CC基因型局灶性癫痫患儿血清NRG-1水平低于CT、TT基因型(P均<0.05),CT、TT基因型间局灶性癫痫患儿血清NRG-1水平比较差异无统计学意义(P>0.05)。无效组脑电图异常、癫痫家族史比例高于有效组(P<0.05)。脑电图异常、CC基因型是ASM疗效的危险因素(P均<0.05),血清NRG-1水平高是保护因素(P<0.05)。结论NRG-1基因rs35753505位点多态性和血清NRG-1水平影响局灶性癫痫的易感性和ASM疗效。
Objective To investigate the significance of neuregulin 1(NRG-1)gene rs35753505 polymorphism and changes of serum NRG-1 level in children with focal epilepsy.Methods Totally 101 children with focal epilepsy(epi⁃lepsy group)and 101 healthy children(control group)were selected.According to the curative effect,the children with epilepsy were divided into the effective group(n=71)and ineffective group(n=30).The polymorphism of NRG-1 gene rs35753505 was detected by polymerase chain reaction and ligase detection reaction,and NRG-1 was detected by enzymelinked immunosorbent assay.Multivariate Logistic regression model was used to analyze the effect of serum NRG-1 level on the efficacy of ASM.Results The CC genotype and allele C gene frequencies in the epilepsy group were higher than those in the control group(both P<0.05),and the serum NRG-1 level was lower than that in the control group(P<0.05).The risk of focal epilepsy was higher in CC genotype than in TT(OR=1.658,95%CI:1.506-1.957)and CT(OR=1.404,95%CI:1.205-1.733)genotypes(both P<0.05);the risk of focal epilepsy was higher in C allele than in T al⁃lele(OR=1.872,95%CI:1.643-2.892,P<0.05).The CC genotype and allele C gene frequencies in the ineffective group were higher than those in the effective group(both P<0.05),and the serum NRG-1 level was lower than that in the effective group(P<0.05).The risk of invalid ASM was higher in CC genotype than in TT(OR=1.358,95%CI:1.106-1.537)and CT(OR=1.274,95%CI:1.075-1.465)genotypes(both P<0.05),and the risk of invalid ASM was higher in C allele than in T allele(OR=1.572,95%CI:1.465-1.432,P<0.05).The serum NRG-1 level in focal epilepsy chil⁃dren with CC genotype was lower than that of children with CT and TT genotypes(all P<0.05),and there was no signifi⁃cant difference in serum NRG-1 level between CT and TT genotypes in children with focal epilepsy(P>0.05).The propor⁃tions of abnormal EEG and family history of epilepsy in the ineffective group were higher than those in the effective group(both P<0.05).Abnormal EEG and
作者
赵秋霞
李海霞
陶永明
ZHAO Qiuxia;LI Haixia;TAO Yongming(Department of Pediatrics,Yuncheng Central Hospital Affiliated to Shanxi Medical University,Yuncheng 044000,China;不详)
出处
《山东医药》
CAS
2024年第31期35-39,共5页
Shandong Medical Journal
基金
山西省卫生健康科研课题(2019076)。
