Associations of SLCO gene polymorphisms with perampanel response and plasma concentrations in patients: a longitudinal retrospective real-world study in refractory epilepsy.

IF 1.6 4区医学 Q3 PHARMACOLOGY & PHARMACY

Pharmacogenomics Pub Date : 2026-08-01 Epub Date: 2026-09-27 DOI:10.1080/14622416.2026.2730713

Ting Zhao, Hong-Jian Li, Hui-Lan Zhang, Jing Yu, Yan Sun, Lu-Hai Yu, Lu-Feng Cheng

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引用次数: 0

Abstract

Objective: This study analyzed the correlation between SLCO gene polymorphisms and the efficacy and plasma concentrations of perampanel (PER) in pediatric patients with refractory epilepsy (RE).

Methods: SLCO genotypes were detected using first-generation Sanger sequencing, and the plasma concentration of PER was measured using ultra-performance liquid chromatography-tandem mass spectrometry.

Results: The overall efficacy of PER in treating patients with RE was observed in 64.3% of patients (74 of 115). SLCO1A2 rs4149000, SLCO1B1 rs2306283, and rs12422149 gene polymorphisms were significantly associated with the efficacy of PER in treating RE. Age, epilepsy duration, concomitant medications, and SLCO1A2 rs4149000 polymorphisms were important predictors of effective seizure control related to PER treatment (p < 0.05). PER plasma concentrations were significantly higher in the effective group of pediatric patients receiving the once-daily regimen than in the ineffective group (598.5 ± 390.2 vs 452.9 ± 296.5 ng/mL; p = 0.027).

Conclusion: SLCO gene polymorphisms were shown to be important predictors of effective seizure control related to PER treatment and were identified as factors affecting plasma concentrations of PER. The findings on SLCO genotypes and PER plasma concentration monitoring provide a promising treatment strategy for Chinese patients with RE.

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难治性癫痫患者SLCO基因多态性与perampanel反应和血浆浓度的关联：一项纵向回顾性现实世界研究。

目的：分析小儿难治性癫痫（RE）患者SLCO基因多态性与perampanel （PER）疗效及血药浓度的相关性。方法：采用第一代Sanger测序法检测SLCO基因型，采用超高效液相色谱-串联质谱法测定血浆PER浓度。结果：PER治疗RE患者的总有效率为64.3%（74 / 115）。SLCO1A2 rs4149000、SLCO1B1 rs2306283和rs12422149基因多态性与PER治疗RE的疗效显著相关。年龄、癫痫持续时间、伴随用药以及SLCO1A2 rs4149000基因多态性是PER治疗有效控制癫痫发作的重要预测因子（p p = 0.027）。结论：SLCO基因多态性被证明是与PER治疗相关的有效癫痫控制的重要预测因素，并被确定为影响PER血浆浓度的因素。SLCO基因型和PER血药浓度监测结果为中国RE患者提供了一个有希望的治疗策略。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Pharmacogenomics 医学-药学

CiteScore

3.40

自引率

9.50%

发文量

审稿时长

4-8 weeks

期刊介绍： Pharmacogenomics (ISSN 1462-2416) is a peer-reviewed journal presenting reviews and reports by the researchers and decision-makers closely involved in this rapidly developing area. Key objectives are to provide the community with an essential resource for keeping abreast of the latest developments in all areas of this exciting field. Pharmacogenomics is the leading source of commentary and analysis, bringing you the highest quality expert analyses from corporate and academic opinion leaders in the field.