癫痫患儿ABCB1基因多态性与左乙拉西坦治疗疗效的关系分析
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云南省科技厅基础研究计划项目(202101AY070001-218); 云南省“兴滇英才支持计划”医疗卫生人才专项支持项目(XDYC-YLWS-2023-0005); 云南省昆明市卫生健康委员会卫生科研课题项目(2020-06-04-114); 云南省昆明市医学技术中心建设项目[2022-SW(技术)-19];


Analysis of the relationship between ABCB1 gene polymorphism and the therapeutic effect of levetiracetam in children with epilepsy
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    摘要:

    目的:探究ATP结合盒B亚家族1转运蛋白(ABCB1)基因多态性与左乙拉西坦(LEV)治疗儿童癫痫疗效的相关性。方法:纳入94例癫痫患儿为研究对象,均规范使用LEV治疗,按疗效不同分为有效组(n=76)与无效组(n=18)。使用聚合酶链反应及荧光原位杂交(PCR-FISH)法检测所有患儿ABCB1基因型,收集各项临床资料。比较两组患儿临床资料及ABCB1基因型差异,用Logistic回归模型确定LEV治疗无效的危险因素。结果:与有效组相比,无效组首次发作为肌阵挛类型占比、发作频率、EEG异常、出生窒息占比均更高(P<0.05)。相比有效组,无效组ABCB1 C3435T TT型比例更高,T基因分布频率更高,差异均有统计学意义(P<0.05)。Logistic回归分析显示,发作频率(OR=5.812)、出生窒息(OR=3.274)、ABCB1基因型(OR=7.675)均为癫痫患儿LEV疗效的独立影响因素(P<0.05)。以TT基因型的治疗无效风险较CC、CT型更高。结论:ABCB1基因多态性与儿童癫痫LEV疗效密切相关,TT基因型可能是LEV治疗无效的危险因素,另外,发作频率较高、出生窒息者的LEV治疗无效风险也更高。

    Abstract:

    Objective:To investigate the correlation between ATP-binding cassette B subfamily 1 transporter(ABCB1)gene polymorphism and the efficacy of levetiracetam(LEV)in children with epilepsy.Methods;A total of 94 children with epilepsy were se-lected as the research subjects.According to the curative effect,they were divided into effective group(n=76)and ineffective group(n=18).Polymerase chain reaction and fluorescence in situ hybridization(PCR-FISH)were used to detect ABCBI genotypes in all children,and clinical data were collected.The clinical data and ABCBI genotype were compared between the two groups.Logistic regres-sion model was used to determine the risk factors of LEV treatment failure.Results;Compared with the effective group,the proportion of first onset as myoclonic type,seizure frequency,EEG abnormality and birth suffocation in the ineffective group were higher(P<0.05).Compared with the effective group,the proportion of ABCB1 C3435 T TT type in the ineffective group was higher,and the frequency of T gene distribution was higher,the differences were statistically significant(P<0.05).Logistic regression analysis showed that seizure frequency(OR=5.812),birth asphyxia(OR=3.274),and ABCB1 genotype(OR=7.675)were independent influencing factors of LEV efficacy in children with epilepsy(P<0.05).The risk of treatment failure with TT genotype was higher than that with CC and CT genotypes.Conclusion:ABCB1 gene polymorphism is closely related to the efficacy of epilepsy in children.TT genotype may be a risk factor for LEV treatment failure.In addition,the risk of ineffective LEV treatment is higher in patients with higher seizure frequency and birth asphyxia.

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王左华;段文浩;王春霞;聂文莎;郑宇霞;张霞;王惠萍;.癫痫患儿ABCB1基因多态性与左乙拉西坦治疗疗效的关系分析[J].川北医学院学报,2025,40(1):33-36.

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  • 在线发布日期: 2025-07-24
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