ABCB1基因多态性对卡马西平血药浓度的影响

目的:探讨ABCB1基因多态性对卡马西平血药浓度的影响。方法:采用荧光偏振免疫法(FPIA)测定275例口服卡马西平癫痫患者的血药浓度,聚合酶链式反应-限制性片段长度多态性方法(PCR-RFLP)或直接测序法检测ABCB1多态性位点C1236T、G2677T/A和C3435T的基因型。单因素方差分析计算各SNP位点不同基因型对应的卡马西平血药浓度是否有差异。结果:G2677T/A不同基因型对应的调整后血药浓度均值之间差别有显著性,TT基因型对应的调整后血药浓度显著高于GG型(P=0.001)。C1236T、C3435T各基因型对应的调整后血药浓度均值差别无统计学意义(P>0.05)。结论:ABCB1基因SNP位点G2677T/A的基因多态性对口服卡马西平癫痫患者的血药浓度有影响,提示TT基因型的患者可适当减少药物使用剂量。

Effects of ABCB1polymorphisms on plasma carbamazepine concentration

OBJECTIVE To investigate the effects of ABCB1 polymorphisms on plasma carbamazepine(CBZ) concentrations.METHODS The plasma carbamazepine concentrations were determined by FPIA in 275 epileptic patients.C1236T,G2677T/A and C3435T polymorphisms of ABCB1 were genotyped by polymerase chain reaction amplification followed by restriction fragment length polymorphism analysis or by gene sequencing.CBZ concentrations of every genotype were compared using one-way ANOVA.RESULTS In G2677T/A,the adjusted CBZ concentrations of the patients with TT genotype were higher than those with GG genotype(P=0.001).However,no significant difference was observed between the polymorphisms of C1236T and C3435T and the adjusted CBZ concentrations(P>0.05).CONCLUSION G2677T/A polymorphism of ABCB1 is associated with different plasma CBZ levels in patients with epilepsy.Our results suggest that the patients with 2677-TT genotype should properly reduce CBZ dose.