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

IF 3.2 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

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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.

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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.