Department of Pharmaceutics, College of Pharmacy, University of Florida, P.O. Box 100494, 1600 Archer Road, Gainesville, Florida, 32610, USA.
AAPS J. 2013 Oct;15(4):1189-99. doi: 10.1208/s12248-013-9528-9. Epub 2013 Aug 30.
The SNP A6986G of the CYP3A5 gene (*3) results in a non-functional protein due to a splicing defect whereas the C3435T was associated with variable expression of the ABCB1 gene, due to protein instability. Part of the large interindividual variability in tacrolimus efficacy and toxicity can be accounted for by these genetic factors. Seventy-two individuals were examined for A6986G and C3435T polymorphism using a PCR-RFLP-based technique to estimate genotype and allele frequencies in the Jordanian population. The association of age, hematocrit, platelet count, CYP3A5, and ABCB1 polymorphisms with tacrolimus dose- and body-weight-normalized levels in the subset of 38 pediatric renal transplant patients was evaluated. A Markov model was used to evaluate the time-dependent probability of an adverse event occurrence by CYP3A5 phenotypes and ABCB1 genotypes. The time-dependent probability of adverse event was about double in CYP3A5 non-expressors compared to the expressors for the first 12 months of therapy. The CYP3A5 non-expressors had higher corresponding normalized tacrolimus levels compared to the expressors in the first 3 months. The correlation trend between probability of adverse events and normalized tacrolimus concentrations for the two CYP3A5 phenotypes persisted for the first 9 months of therapy. The differences among ABCB1 genotypes in terms of adverse events and normalized tacrolimus levels were only observed in the first 3 months of therapy. The information on CYP3A5 genotypes and tacrolimus dose requirement is important in designing effective programs toward management of tacrolimus side effects particularly for the initial dose when tacrolimus blood levels are not available for therapeutic drug monitoring.
CYP3A5 基因的 SNP A6986G(*3)由于剪接缺陷导致无功能蛋白,而 C3435T 与 ABCB1 基因的表达可变有关,这是由于蛋白质不稳定。他克莫司疗效和毒性的个体间差异的一部分可以用这些遗传因素来解释。使用基于 PCR-RFLP 的技术检查了 72 个人的 A6986G 和 C3435T 多态性,以估计约旦人群中的基因型和等位基因频率。评估了 38 例儿科肾移植患者亚组中年龄、红细胞压积、血小板计数、CYP3A5 和 ABCB1 多态性与他克莫司剂量和体重归一化水平的相关性。使用马尔可夫模型评估 CYP3A5 表型和 ABCB1 基因型对不良事件发生时间依赖性概率的影响。在治疗的前 12 个月,CYP3A5 无表达者发生不良事件的时间依赖性概率约为表达者的两倍。在治疗的前 3 个月,CYP3A5 无表达者的相应归一化他克莫司水平高于表达者。两种 CYP3A5 表型的不良事件与归一化他克莫司浓度之间的相关趋势在治疗的前 9 个月内持续存在。在治疗的前 3 个月,仅观察到 ABCB1 基因型在不良事件和归一化他克莫司水平方面的差异。关于 CYP3A5 基因型和他克莫司剂量需求的信息对于设计有效的他克莫司副作用管理方案非常重要,特别是在没有他克莫司血药浓度进行治疗药物监测时,初始剂量尤为重要。