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目的考察细胞色素P450 2C9*3(CYP2C9*3)(1075A>C)基因多态性与癫痫易感性及其与丙戊酸钠(VPA)血清浓度的相关性。方法收集245名健康志愿者和191例癫痫患者的外周血,提取DNA。用Sequenom Mass Array方法检测CYP2C9*3基因型,用荧光偏振免疫分析法测定VPA稳态血清浓度。结果癫痫患者和健康志愿者的CYP2C9*3等位基因频率分别为4.45%和2.04%,差异有统计学意义(P<0.05)。C等位基因频率的优势比为2.23,C等位基因显著增加癫痫的发病风险(P<0.05)。CYP2C9*1/*1基因型组和CYP2C9*1/*3基因型组癫痫患者的稳态VPA浓度分别为(55.90±21.11)和(67.75±21.36)μg·m L-1,差异有统计学意义(P<0.05)。结论 CYP2C9*3可显著增加癫痫的发病风险,C等位基因是癫痫的易感等位基因,且CYP2C9*3基因多态性可影响VPA稳态血清浓度。
Objective To investigate the genetic polymorphisms of cytochrome P450 2C9 * 3 (CYP2C9 * 3) (1075A> C) and its susceptibility to epilepsy and its correlation with the plasma concentration of sodium valproate (VPA). Methods Peripheral blood samples from 245 healthy volunteers and 191 epileptic patients were collected for DNA extraction. The CYP2C9 * 3 genotype was detected by Sequenom Mass Array and the steady-state serum VPA concentration was determined by fluorescence polarization immunoassay. Results The frequencies of CYP2C9 * 3 alleles in epileptic patients and healthy volunteers were 4.45% and 2.04%, respectively, with statistical significance (P <0.05). The odds ratio of C allele was 2.23, C allele significantly increased the risk of epilepsy (P <0.05). The steady-state VPA concentrations in patients with CYP2C9 * 1 / * 1 genotype and CYP2C9 * 1 / * 3 genotypes were (55.90 ± 21.11) and (67.75 ± 21.36) μg · m L-1, respectively Significance (P <0.05). Conclusion CYP2C9 * 3 can significantly increase the risk of epilepsy, C allele is a predisposing allele of epilepsy, and CYP2C9 * 3 polymorphism can affect steady-state VPA serum concentration.