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

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 ped...

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Main Authors: Hongli Wang, Chu Li, Qian Li, Ning Li, Huiling Qin
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Italian Journal of Pediatrics
Subjects:
Online Access:https://doi.org/10.1186/s13052-025-01870-7
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author Hongli Wang
Chu Li
Qian Li
Ning Li
Huiling Qin
author_facet Hongli Wang
Chu Li
Qian Li
Ning Li
Huiling Qin
author_sort Hongli Wang
collection DOAJ
description 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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series Italian Journal of Pediatrics
spelling doaj-art-b1fe3b1f47c04ec180a37def224cfe712025-02-09T12:48:09ZengBMCItalian Journal of Pediatrics1824-72882025-02-015111810.1186/s13052-025-01870-7Drug response is related to NR3C1 and FAAH polymorphism in Chinese pediatric epilepsy patientsHongli Wang0Chu Li1Qian Li2Ning Li3Huiling Qin4Department of Paediatric, Affiliated Hospital of Chengdu UniversityThe First Clinical Medical School, Guangzhou University of Chinese MedicineDepartment of Paediatric, Dongying People’s HospitalDepartment of Surgery, Guangrao County Traditional Chinese Medicine HospitalDepartment of Rehabilitation Medicine, The Affiliated Hospital of Youjiang Medical University for NationalitiesAbstract 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.https://doi.org/10.1186/s13052-025-01870-7NR3C1 rs41423247FAAH rs324420Drug responseEpilepsyLiver dysfunction
spellingShingle Hongli Wang
Chu Li
Qian Li
Ning Li
Huiling Qin
Drug response is related to NR3C1 and FAAH polymorphism in Chinese pediatric epilepsy patients
Italian Journal of Pediatrics
NR3C1 rs41423247
FAAH rs324420
Drug response
Epilepsy
Liver dysfunction
title Drug response is related to NR3C1 and FAAH polymorphism in Chinese pediatric epilepsy patients
title_full Drug response is related to NR3C1 and FAAH polymorphism in Chinese pediatric epilepsy patients
title_fullStr Drug response is related to NR3C1 and FAAH polymorphism in Chinese pediatric epilepsy patients
title_full_unstemmed Drug response is related to NR3C1 and FAAH polymorphism in Chinese pediatric epilepsy patients
title_short Drug response is related to NR3C1 and FAAH polymorphism in Chinese pediatric epilepsy patients
title_sort drug response is related to nr3c1 and faah polymorphism in chinese pediatric epilepsy patients
topic NR3C1 rs41423247
FAAH rs324420
Drug response
Epilepsy
Liver dysfunction
url https://doi.org/10.1186/s13052-025-01870-7
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