Effect of CYP2D6 and ABCB1 polymorphisms on pharmacokinetics and efficacy of aripiprazole in pediatric tic disorders

Abstract Background Aripiprazole (ARI) is the first-line treatment for tic disorders (TD). Cytochrome P450(CYP)2D6 (CYP2D6) and ATP-binding cassette, sub-family B, member 1 (ABCB1) transporter are involved in the metabolism of ARI. However, whether CYP2D6 and ABCB1 genetic polymorphisms influence cl...

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Main Authors: Yingying Xin, Liuliu Gao, Sichan Li, Jun Wang, Chen Chen, Yali Tuo, Gang Nie, Ruizhen Li, Dan Sun, Yongli Fu, Yang Wang, Zhisheng Liu
Format: Article
Language:English
Published: BMC 2025-07-01
Series:BMC Pediatrics
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Online Access:https://doi.org/10.1186/s12887-025-05856-6
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author Yingying Xin
Liuliu Gao
Sichan Li
Jun Wang
Chen Chen
Yali Tuo
Gang Nie
Ruizhen Li
Dan Sun
Yongli Fu
Yang Wang
Zhisheng Liu
author_facet Yingying Xin
Liuliu Gao
Sichan Li
Jun Wang
Chen Chen
Yali Tuo
Gang Nie
Ruizhen Li
Dan Sun
Yongli Fu
Yang Wang
Zhisheng Liu
author_sort Yingying Xin
collection DOAJ
description Abstract Background Aripiprazole (ARI) is the first-line treatment for tic disorders (TD). Cytochrome P450(CYP)2D6 (CYP2D6) and ATP-binding cassette, sub-family B, member 1 (ABCB1) transporter are involved in the metabolism of ARI. However, whether CYP2D6 and ABCB1 genetic polymorphisms influence clinical efficacy and pharmacokinetics of ARI remains unclear. Methods CYP2D6 and ABCB1 genotyping were performed. Pharmacokinetic parameters of ARI and its metabolite dehydroaripiprazole (DARI) were derived using a previously established population pharmacokinetic model. Drug response after ARI administration was evaluated based on reduction rate of Yale Global Tic Severity Scale score (YGTSS). Results Steady-state DARI/ARI metabolic ratios (MRs) of AUC0 − t, Cmin and Cmax were significantly associated with CYP2D6 rs1135840, CYP2D6 rs5030865, CYP2D6 rs1058164, CYP2D6 rs28371702, CYP2D6 rs1065852 and CYP2D6 rs1080989. The clearance (CL) of ARI was influenced by CYP2D6 rs1135840, CYP2D6 rs5030865, and CYP2D6 rs1080989. CYP2D6 rs16947, CYP2D6 rs29001518 and CYP2D6 rs1080985 were correlated with the CL of DARI. The CYP2D6 rs5030865 polymorphism was associated with volume of distribution (V) of DARI. The ABCB1 C3435T (rs1045642) polymorphism influenced the V of ARI. CYP2D6 rs1065852 and CYP2D6 rs1080989 were significantly associated with drug response of ARI. Conclusion Pharmacokinetic parameters of ARI were correlated with CYP2D6 polymorphisms. CYP2D6 genotyping was recommended in ARI therapy. Further researches are required to elucidate the role of ABCB1 polymorphisms in ARI metabolism.
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spelling doaj-art-8775ac75ad5a40e0b4f5b711bd2d2cc62025-08-20T03:04:17ZengBMCBMC Pediatrics1471-24312025-07-0125111010.1186/s12887-025-05856-6Effect of CYP2D6 and ABCB1 polymorphisms on pharmacokinetics and efficacy of aripiprazole in pediatric tic disordersYingying Xin0Liuliu Gao1Sichan Li2Jun Wang3Chen Chen4Yali Tuo5Gang Nie6Ruizhen Li7Dan Sun8Yongli Fu9Yang Wang10Zhisheng Liu11Department of Child Health, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science & TechnologyDepartment of Pharmacy, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science & TechnologyDepartment of Pharmacy, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science & TechnologyDepartment of Pharmacy, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science & TechnologyDepartment of Pharmacy, Union Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Pharmacy, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science & TechnologyDepartment of Pharmacy, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science & TechnologyDepartment of Child Health, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science & TechnologyDepartment of Neurology, Tongji Medical College, Wuhan Children’s Hospital, Huazhong University of Science & TechnologyDepartment of Pharmacy, Wuhan Mental Health Center, Tongji Medical College, Huazhong University of Science & TechnologyOffice of Clinical Trial Institution, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science & TechnologyDepartment of Neurology, Tongji Medical College, Wuhan Children’s Hospital, Huazhong University of Science & TechnologyAbstract Background Aripiprazole (ARI) is the first-line treatment for tic disorders (TD). Cytochrome P450(CYP)2D6 (CYP2D6) and ATP-binding cassette, sub-family B, member 1 (ABCB1) transporter are involved in the metabolism of ARI. However, whether CYP2D6 and ABCB1 genetic polymorphisms influence clinical efficacy and pharmacokinetics of ARI remains unclear. Methods CYP2D6 and ABCB1 genotyping were performed. Pharmacokinetic parameters of ARI and its metabolite dehydroaripiprazole (DARI) were derived using a previously established population pharmacokinetic model. Drug response after ARI administration was evaluated based on reduction rate of Yale Global Tic Severity Scale score (YGTSS). Results Steady-state DARI/ARI metabolic ratios (MRs) of AUC0 − t, Cmin and Cmax were significantly associated with CYP2D6 rs1135840, CYP2D6 rs5030865, CYP2D6 rs1058164, CYP2D6 rs28371702, CYP2D6 rs1065852 and CYP2D6 rs1080989. The clearance (CL) of ARI was influenced by CYP2D6 rs1135840, CYP2D6 rs5030865, and CYP2D6 rs1080989. CYP2D6 rs16947, CYP2D6 rs29001518 and CYP2D6 rs1080985 were correlated with the CL of DARI. The CYP2D6 rs5030865 polymorphism was associated with volume of distribution (V) of DARI. The ABCB1 C3435T (rs1045642) polymorphism influenced the V of ARI. CYP2D6 rs1065852 and CYP2D6 rs1080989 were significantly associated with drug response of ARI. Conclusion Pharmacokinetic parameters of ARI were correlated with CYP2D6 polymorphisms. CYP2D6 genotyping was recommended in ARI therapy. Further researches are required to elucidate the role of ABCB1 polymorphisms in ARI metabolism.https://doi.org/10.1186/s12887-025-05856-6CYP2D6ABCB1AripiprazolePharmacokineticsTic disordersEfficacy
spellingShingle Yingying Xin
Liuliu Gao
Sichan Li
Jun Wang
Chen Chen
Yali Tuo
Gang Nie
Ruizhen Li
Dan Sun
Yongli Fu
Yang Wang
Zhisheng Liu
Effect of CYP2D6 and ABCB1 polymorphisms on pharmacokinetics and efficacy of aripiprazole in pediatric tic disorders
BMC Pediatrics
CYP2D6
ABCB1
Aripiprazole
Pharmacokinetics
Tic disorders
Efficacy
title Effect of CYP2D6 and ABCB1 polymorphisms on pharmacokinetics and efficacy of aripiprazole in pediatric tic disorders
title_full Effect of CYP2D6 and ABCB1 polymorphisms on pharmacokinetics and efficacy of aripiprazole in pediatric tic disorders
title_fullStr Effect of CYP2D6 and ABCB1 polymorphisms on pharmacokinetics and efficacy of aripiprazole in pediatric tic disorders
title_full_unstemmed Effect of CYP2D6 and ABCB1 polymorphisms on pharmacokinetics and efficacy of aripiprazole in pediatric tic disorders
title_short Effect of CYP2D6 and ABCB1 polymorphisms on pharmacokinetics and efficacy of aripiprazole in pediatric tic disorders
title_sort effect of cyp2d6 and abcb1 polymorphisms on pharmacokinetics and efficacy of aripiprazole in pediatric tic disorders
topic CYP2D6
ABCB1
Aripiprazole
Pharmacokinetics
Tic disorders
Efficacy
url https://doi.org/10.1186/s12887-025-05856-6
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