Drug response is related to NR3C1 and FAAH polymorphism in Chinese pediatric epilepsy patients.

IF 3.1 3区医学 Q1 PEDIATRICS Italian Journal of Pediatrics Pub Date : 2025-02-07 DOI:10.1186/s13052-025-01870-7

Hongli Wang, Chu Li, Qian Li, Ning Li, Huiling Qin

{"title":"Drug response is related to NR3C1 and FAAH polymorphism in Chinese pediatric epilepsy patients.","authors":"Hongli Wang, Chu Li, Qian Li, Ning Li, Huiling Qin","doi":"10.1186/s13052-025-01870-7","DOIUrl":null,"url":null,"abstract":"Background: Childhood epilepsy is a common neurological syndrome with complex etiology and recurrent seizures. It seriously affects the growth and development of child patients.Methods: NR3C1 rs41423247 and FAAH rs324420 polymorphisms were detected by the polymerase chain reaction in 105 pediatric epilepsy patients. Patients were divided into the good response group and the poor response group after anti-seizure medications (ASMs) treatment. According to the results of the liver function test (LFT), patients were divided into the no LFT disturbance group and the LFT disturbance group. Hardy-Weinberg balance was applied to analyze the population representation. The correlations were calculated by logistic regression analysis.Results: NR3C1 rs41423247 genotype and allele frequencies differed significantly between good response and poor response groups, while FAAH rs324420 did not. The CG genotype and C allele of NR3C1 rs41423247 were associated with good drug response, and the association was also detected in the dominant model. In addition, polymorphisms in NR3C1 and FAAH were not associated with liver damage induced by epilepsy medication.Conclusion: The polymorphism of NR3C1 rs41423247 might influence the drug response of epilepsy children.","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"28"},"PeriodicalIF":3.1000,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11803932/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Italian Journal of Pediatrics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s13052-025-01870-7","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PEDIATRICS","Score":null,"Total":0}

引用次数: 0

Abstract

Background: Childhood epilepsy is a common neurological syndrome with complex etiology and recurrent seizures. It seriously affects the growth and development of child patients.

Methods: NR3C1 rs41423247 and FAAH rs324420 polymorphisms were detected by the polymerase chain reaction in 105 pediatric epilepsy patients. Patients were divided into the good response group and the poor response group after anti-seizure medications (ASMs) treatment. According to the results of the liver function test (LFT), patients were divided into the no LFT disturbance group and the LFT disturbance group. Hardy-Weinberg balance was applied to analyze the population representation. The correlations were calculated by logistic regression analysis.

Results: NR3C1 rs41423247 genotype and allele frequencies differed significantly between good response and poor response groups, while FAAH rs324420 did not. The CG genotype and C allele of NR3C1 rs41423247 were associated with good drug response, and the association was also detected in the dominant model. In addition, polymorphisms in NR3C1 and FAAH were not associated with liver damage induced by epilepsy medication.

Conclusion: The polymorphism of NR3C1 rs41423247 might influence the drug response of epilepsy children.

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

中国儿童癫痫患者的药物反应与NR3C1和FAAH多态性有关。

背景：儿童癫痫是一种病因复杂、反复发作的常见神经系统综合征。严重影响患儿的生长发育。方法：采用聚合酶链反应检测105例小儿癫痫患者NR3C1 rs41423247和FAAH rs324420基因多态性。患者经抗癫痫药物治疗后分为良好反应组和不良反应组。根据肝功能检查（LFT）结果将患者分为肝功能无障碍组和肝功能障碍组。采用Hardy-Weinberg平衡分析总体代表性。通过逻辑回归分析计算相关性。结果：NR3C1 rs41423247基因型和等位基因频率在良好反应组和不良反应组之间存在显著差异，而FAAH rs324420基因型和等位基因频率在不良反应组之间无显著差异。NR3C1 rs41423247的CG基因型和C等位基因与良好的药物反应相关，并且在优势模型中也检测到这种关联。此外，NR3C1和FAAH的多态性与癫痫药物引起的肝损害无关。结论：NR3C1 rs41423247基因多态性可能影响癫痫患儿的药物反应。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文去求助

来源期刊

Italian Journal of Pediatrics PEDIATRICS-

CiteScore

6.10

自引率

13.90%

发文量

192

审稿时长

6-12 weeks

期刊介绍： Italian Journal of Pediatrics is an open access peer-reviewed journal that includes all aspects of pediatric medicine. The journal also covers health service and public health research that addresses primary care issues. The journal provides a high-quality forum for pediatricians and other healthcare professionals to report and discuss up-to-the-minute research and expert reviews in the field of pediatric medicine. The journal will continue to develop the range of articles published to enable this invaluable resource to stay at the forefront of the field. Italian Journal of Pediatrics, which commenced in 1975 as Rivista Italiana di Pediatria, provides a high-quality forum for pediatricians and other healthcare professionals to report and discuss up-to-the-minute research and expert reviews in the field of pediatric medicine. The journal will continue to develop the range of articles published to enable this invaluable resource to stay at the forefront of the field.