Stingl Julia Carolin, Radermacher Jason, Wozniak Justyna, Viviani Roberto
Institute of Clinical Pharmacology, University Hospital of RWTH, 52074 Aachen, Germany.
Institute of Psychology, University of Innsbruck, 6020 Innsbruck, Austria.
Pharmaceutics. 2022 Dec 16;14(12):2833. doi: 10.3390/pharmaceutics14122833.
Pharmacogenetic variability in drug metabolism leads to patient vulnerability to side effects and to therapeutic failure. Our purpose was to introduce a systematic statistical methodology to estimate quantitative dose adjustments based on pharmacokinetic differences in pharmacogenetic subgroups, addressing the concerns of sparse data, incomplete information on phenotypic groups, and heterogeneity of study design. Data on psychotropic drugs metabolized by the cytochrome P450 enzyme CYP2C19 were used as a case study. CYP2C19 activity scores were estimated, while statistically assessing the influence of methodological differences between studies, and used to estimate dose adjustments in genotypic groups. Modeling effects of activity scores in each substance as a population led to prudential predictions of adjustments when few data were available ('shrinkage'). The best results were obtained with the regularized horseshoe, an innovative Bayesian approach to estimate coefficients viewed as a sample from two populations. This approach was compared to modeling the population of substance as normally distributed, to a more traditional "fixed effects" approach, and to dose adjustments based on weighted means, as in current practice. Modeling strategies were able to assess the influence of study parameters and deliver adjustment levels when necessary, extrapolated to all phenotype groups, as well as their level of uncertainty. In addition, the horseshoe reacted sensitively to small study sizes, and provided conservative estimates of required adjustments.
药物代谢中的药物遗传学变异性会导致患者易出现副作用和治疗失败。我们的目的是引入一种系统的统计方法,根据药物遗传学亚组中的药代动力学差异来估计定量剂量调整,解决数据稀疏、表型组信息不完整以及研究设计异质性等问题。以细胞色素P450酶CYP2C19代谢的精神药物数据作为案例研究。估计了CYP2C19活性评分,同时在统计上评估了研究之间方法差异的影响,并用于估计基因型组中的剂量调整。将每种物质的活性评分作为总体进行建模,在数据较少时(“收缩”)可以谨慎地预测调整情况。使用正则化马蹄形方法(一种创新的贝叶斯方法,用于估计被视为来自两个总体样本的系数)获得了最佳结果。将该方法与将物质总体建模为正态分布的方法、更传统的“固定效应”方法以及当前实践中基于加权均值的剂量调整方法进行了比较。建模策略能够评估研究参数的影响,并在必要时给出调整水平,外推到所有表型组以及它们的不确定性水平。此外,马蹄形方法对小样本研究反应灵敏,并提供了所需调整的保守估计。