首页|局灶性癫痫患儿NRG-1基因rs35753505位点多态性及血清NRG-1水平变化的意义

局灶性癫痫患儿NRG-1基因rs35753505位点多态性及血清NRG-1水平变化的意义

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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。
Significance of NRG-1 gene rs35753505 polymorphism and changes of serum NRG-1 level in children with focal epilepsy
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 enzyme-linked 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 CC genotype were risk factors for the efficacy of ASM(P<0.05),and high serum NRG-1 level was a protective factor(P<0.05).Conclusion NRG-1 gene rs35753505 polymorphism and serum NRG-1 level affect the susceptibility of focal epilepsy and the efficacy of ASM.

focal epilepsyneuregulin 1gene polymorphismanti-epileptic drugssusceptibilityclinical efficacy

赵秋霞、李海霞、陶永明

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山西医科大学附属运城市中心医院儿内科,山西 运城 044000

山西医科大学附属运城市中心医院医学检验科

局灶性癫痫 神经调节蛋白1 基因多态性 抗癫痫药物 易感性 临床疗效

山西省卫生健康科研课题

2019076

2024

山东医药
山东卫生报刊社

山东医药

CSTPCD
影响因子:1.225
ISSN:1002-266X
年,卷(期):2024.64(31)