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ABCB1、ABCC2、UGT2B7 和 HNF4α 基因多态性对癫痫患者奥卡西平浓度和疗效的影响。

Effects of ABCB1, ABCC2, UGT2B7 and HNF4α genetic polymorphisms on oxcarbazepine concentrations and therapeutic efficacy in patients with epilepsy.

机构信息

Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, China.

Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, China.

出版信息

Seizure. 2017 Oct;51:102-106. doi: 10.1016/j.seizure.2017.07.015. Epub 2017 Aug 1.

DOI:10.1016/j.seizure.2017.07.015
PMID:28837897
Abstract

PURPOSE

The aim of the study is to investigate the effects of ABCB1, ABCC2, UGT2B7 and HNF4α genetic polymorphisms on plasma oxcarbazepine (OXC) concentrations and therapeutic efficacy in Han Chinese patients with epilepsy.

METHODS

We recruited 116 Han Chinese patients with epilepsy who were receiving OXC monotherapy. Blood samples were taken and OXC levels were measured. The polymorphisms of ABCB1 rs1045642, ABCC2 rs2273697, UGT2B7 rs7439366, and HNF4α rs2071197 were determined. The therapeutic efficacy of OXC at the 1-year time-point was assessed. Data analysis was performed using IBM SPSS Statistics 22.0.

RESULTS

The genetic polymorphism of ABCB1 rs1045642 was found to be associated with normalized OXC concentration and therapeutic efficacy in patients with epilepsy (P<0.05). As for UGT2B7 rs7439366, the allele polymorphism exhibited a correlation with treatment outcome, but not OXC concentration. The polymorphisms of ABCC2 rs2273697 and HNF4α rs2071197 was not associated with OXC concentrations and therapeutic efficacy.

CONCLUSION

These results suggested that ABCB1 rs1045642 and UGT2B7 rs7439366 may affect OXC pharmacokinetics and therapeutic efficacy in Han Chinese patients with epilepsy. However, further studies in larger populations and other ethnic groups are required.

摘要

目的

本研究旨在探讨 ABCB1、ABCC2、UGT2B7 和 HNF4α 基因多态性对汉族癫痫患者奥卡西平（OXC）血药浓度和疗效的影响。

方法

我们招募了 116 名接受 OXC 单药治疗的汉族癫痫患者。采集血样并测定 OXC 水平。检测 ABCB1 rs1045642、ABCC2 rs2273697、UGT2B7 rs7439366 和 HNF4α rs2071197 的多态性。在 1 年时间点评估 OXC 的治疗效果。数据分析采用 IBM SPSS Statistics 22.0 进行。

结果

发现 ABCB1 rs1045642 基因多态性与癫痫患者的 OXC 浓度正常化和疗效相关（P<0.05）。至于 UGT2B7 rs7439366，等位基因多态性与治疗结果相关，但与 OXC 浓度无关。ABCC2 rs2273697 和 HNF4α rs2071197 的多态性与 OXC 浓度和疗效无关。

结论

这些结果表明，ABCB1 rs1045642 和 UGT2B7 rs7439366 可能影响汉族癫痫患者的 OXC 药代动力学和疗效。然而，需要在更大的人群和其他种族群体中进行进一步的研究。

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