癫痫患者中UGT2B7∗2基因多态性与卡马西平和丙戊酸血浆浓度的相关性。

Correlations between UGT2B7∗2 gene polymorphisms and plasma concentrations of carbamazepine and valproic acid in epilepsy patients.

作者信息

Zhang Hui, Zhang Wenfang, Li Yuechun, Yan Jie, Zhang Jinfeng, Wang Baojun

机构信息

Department of Neurology, Baotou Central Hospital, Baotou 014040, China.

Department of Neurology, The Fourth Affiliated Hospital of Baotou Medical College, Baotou 014032, China.

出版信息

Brain Dev. 2018 Feb;40(2):100-106. doi: 10.1016/j.braindev.2017.09.004. Epub 2017 Sep 25.

DOI:10.1016/j.braindev.2017.09.004

PMID:28958730

Abstract

PURPOSE

The study aims to detect the polymorphisms in uridine diphosphate glucuronyl transferase (UGT) 2B7∗2 and investigate the corresponding effects on the blood concentrations of valproic acid (VPA) and carbamazepine (CBZ).

METHODS

A chemiluminescence immunoassay analyzer was used to detect the plasma concentrations of VPA or CBZ in patients. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to analyze UGT2B7∗2 gene polymorphisms.

RESULTS

A total of 117 patients were enrolled under the VPA group, out of which 84 patients were aged 6years or older. Comparison of the blood concentrations of VPA showed significant differences among patients with the three standard genotypes (mutant, heterozygous, and wild-type) based on one-way ANOVA (F=4.386, p=0.016). In addition, comparison of the blood concentrations among the three genotypes in the CBZ group (78 patients) showed no significant differences based on analysis using ANOVA (F=0.897, p=0.412).

CONCLUSION

The UGT2B7∗2 gene polymorphisms significantly affect the standard blood concentrations of VPA, but not CBZ.

摘要

目的

本研究旨在检测尿苷二磷酸葡萄糖醛酸基转移酶（UGT）2B7∗2的多态性，并研究其对丙戊酸（VPA）和卡马西平（CBZ）血药浓度的相应影响。

方法

采用化学发光免疫分析仪检测患者血浆中VPA或CBZ的浓度。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法分析UGT2B7∗2基因多态性。

结果

VPA组共纳入117例患者，其中84例年龄在6岁及以上。基于单因素方差分析（F=4.386，p=0.016），三种标准基因型（突变型、杂合型和野生型）患者的VPA血药浓度比较存在显著差异。此外，基于方差分析（F=0.897，p=0.412），CBZ组（78例患者）三种基因型的血药浓度比较无显著差异。