背景:卡马西平(carbamazepine,CMZP)主要由CYP3A酶家族代谢,其代谢酶主要包括CYP3A5。本研究探讨了CYP3A5基因多态性与卡马西平血清浓度(CMZP)之间的关系,对个体化药物治疗的开展具有十分积极的意义。目的:CYP3A5*3的基因型可以影响CYP3A药物的药代动力学。本研究旨在评估CYP3A基因多态性对癫痫患者血清卡马西平稳态浓度及其代谢物水平的影响。方法:研究共纳入278例患者,检测个体卡马西平的血清浓度及CYP3A5基因型,并探讨CYP3A5基因型对卡马西平稳态血药浓度的影响。结果:根据基因型分为成CYP3A5表达组(CYP3A5*1/*1和CYP3A5*1/*3)和非表达组(CYP3A5*3/*3)两组。278例患者中120例为CYP3A5表达组,158例患者为CYP3A5非表达组。CYP3A5非表达组的总卡马西平剂量和剂量标准化后的卡马西平血清浓度均高于CYP3A5表达组(P=0.608和P=0.000)。CYP3A5表达组中卡马西平环氧化物浓度更高(P=0.000),但这两组间的血清药物浓度无显著差异(P=0.090)。结论:CYP3A5*3基因多态性与卡马西平的血清浓度之间有密切的关系。CYP3A5基因影响了卡马西平血药浓度水平和代谢过程,其可能是导致卡马西平在癫痫患者中个体变异的一个重要因素。 BACKGROUND: Carbamazepine (CMZP) is mainly metabolized by the CYP3A enzyme family and its metabolic enzymes mainly include CYP3A5. This study explored the relationship between CYP3A5 gene polymorphism and carbamazepine serum concentration (CMZP), which is of great significance for the development of personalized medicine. Purpose: The genotype of CYP3A5 * 3 can affect the pharmacokinetics of CYP3A drugs. The purpose of this study was to evaluate the effect of CYP3A polymorphism on the serum concentration of carbamazepine and its metabolites in patients with epilepsy. Methods: A total of 278 patients were enrolled in this study. The serum concentrations of carbamazepine and CYP3A5 genotypes were determined and the effect of CYP3A5 genotype on the plasma concentration of carbamazepine was also investigated. Results: According to genotypes, CYP3A5 expression group (CYP3A5 * 1 / * 1 and CYP3A5 * 1 / * 3) and non-expression group (CYP3A5 * 3 / * 3) were divided into two groups. Of the 278 patients, 120 were CYP3A5-expressing and 158 were CYP3A5-non-expressing. The total carbamazepine dose and the dose-normalized carbamazepine serum concentration in CYP3A5 non-expressing group were higher than those in CYP3A5 expressing group (P = 0.608 and P = 0.000). CYP3A5 expression was higher in carbamazepine epoxide (P = 0.000), but there was no significant difference in serum drug concentrations between the two groups (P = 0.090). Conclusion: There is a close relationship between CYP3A5 * 3 gene polymorphism and serum concentration of carbamazepine. The CYP3A5 gene affects the plasma concentration of carbamazepine and its metabolic processes, which may be an important factor in the individual variability of carbamazepine in epileptic patients.