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台湾汉族人群中药物代谢基因的综合特征分析。

Comprehensive characterization of pharmacogenes in a Taiwanese Han population.

作者信息

Lu Hsing-Fang, Liu Ting-Yuan, Chou Yu-Pao, Chang Shih-Sheng, Hsieh Yow-Wen, Chang Jan-Gowth, Tsai Fuu-Jen

机构信息

Department of Medical Research, China Medical University Hospital, Taichung, Taiwan.

Center for Precision Medicine, China Medical University Hospital, Taichung, Taiwan.

出版信息

Front Genet. 2022 Aug 25;13:948616. doi: 10.3389/fgene.2022.948616. eCollection 2022.

Abstract

Pharmacogenetic (PGx) testing has not been well adopted in current clinical practice. The phenotypic distribution of clinically relevant pharmacogenes remains to be fully characterized in large population cohorts. In addition, no study has explored actionable PGx alleles in the East Asian population at a large scale. This study comprehensively analyzed 14 actionable pharmacogene diplotypes and phenotypes in 172,854 Taiwanese Han individuals by using their genotype data. Furthermore, we analyzed data from electronic medical records to investigate the effect of the actionable phenotypes on the individuals. The PGx phenotype frequencies were comparable between our cohort and the East Asian population. Overall, 99.9% of the individuals harbored at least one actionable PGx phenotype, and 29% of them have been prescribed a drug to which they may exhibit an atypical response. Our findings can facilitate the clinical application of PGx testing and the optimization of treatment and dosage individually.

摘要

药物遗传学(PGx)检测在当前临床实践中尚未得到广泛应用。在大规模人群队列中,临床相关药物基因的表型分布仍有待充分表征。此外,尚无研究在东亚人群中大规模探索可操作的PGx等位基因。本研究通过使用172,854名台湾汉族个体的基因型数据,全面分析了14种可操作药物基因的双倍型和表型。此外,我们分析了电子病历数据,以研究可操作表型对个体的影响。我们队列中的PGx表型频率与东亚人群相当。总体而言,99.9%的个体至少有一种可操作的PGx表型,其中29%的个体已被开具可能会出现非典型反应的药物。我们的研究结果有助于PGx检测的临床应用以及个体治疗和剂量的优化。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/92cb/9452738/39ce3cb56287/fgene-13-948616-g001.jpg

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