Abstract：
Pharmacogenetics (PGx) enhances personalized care, often reducing medical costs, and improving patients\' QOL. Unlike single variant analysis, multiplex PGx panel tests can result in applying comprehensive PGx-guided medication to maximize drug efficacy and minimize adverse reactions. Among PGx genes, drug-metabolizing enzymes and drug transporters have significant roles in the efficacy and safety of various pharmacotherapies. In this study, a genotyping panel has been developed for the Japanese population called PGx_JPN panel comprising 36 variants in 14 genes for drug-metabolizing enzymes and drug transporters using a mass spectrometry-based genotyping method, in which all the variants could be analyzed in two wells for multiplex analysis. The verification test exhibited good concordance with the results analyzed using the other standard genotyping methods (microarray, TaqMan assay, or another mass spectrometry-based commercial kit). However, copy number variations such as CYP2D6*5 could not apply to this system. In this study, we demonstrated that the mass spectrometry-based multiplex method could be useful for in the simultaneous genotyping of more than 30 variants, which are essential among the Japanese population in two wells, except for copy number variations. Further study is needed to assess our panel to demonstrate the clinical use of pharmacogenomics for precision medicine in the Japanese population.
摘要：
药物遗传学（PGx）增强个性化护理，通常会降低医疗费用，改善患者的生活质量。与单一变异分析不同，多重PGx面板测试可以导致应用全面的PGx指导药物，以最大限度地提高药物疗效和减少不良反应。在PGx基因中,药物代谢酶和药物转运体在各种药物治疗的有效性和安全性中具有重要作用.在这项研究中,已经为日本人群开发了一个基因分型小组，称为PGx_JPN小组，包括14种药物代谢酶和药物转运蛋白基因的36种变体，使用基于质谱的基因分型方法，其中可以在两个孔中分析所有变体以进行多重分析。验证测试与使用其他标准基因分型方法（微阵列，TaqMan分析,或其他基于质谱的商业试剂盒)。然而,诸如CYP2D6*5之类的拷贝数变化不能应用于该系统。在这项研究中,我们证明了基于质谱的多重方法可用于30多种变体的同时基因分型，这在两口井中的日本人口中是必不可少的，除了拷贝数变化。需要进一步的研究来评估我们的小组，以证明药物基因组学在日本人群中的临床应用。
