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探索用于群体药物基因组学的公共基因组学数据。

Exploring public genomics data for population pharmacogenomics.

作者信息

Lakiotaki Kleanthi, Kanterakis Alexandros, Kartsaki Evgenia, Katsila Theodora, Patrinos George P, Potamias George

机构信息

Institute of Computer Science, Foundation for Research and Technology, Heraklion, Crete, Greece.

Department of Pharmacy, School of Health Sciences, University of Patras, Rio, Patras, Greece.

出版信息

PLoS One. 2017 Aug 3;12(8):e0182138. doi: 10.1371/journal.pone.0182138. eCollection 2017.

Abstract

Racial and ethnic differences in drug responses are now well studied and documented. Pharmacogenomics research seeks to unravel the genetic underpinnings of inter-individual variability with the aim of tailored-made theranostics and therapeutics. Taking into account the differential expression of pharmacogenes coding for key metabolic enzymes and transporters that affect drug pharmacokinetics and pharmacodynamics, we advise that data interpretation and analysis need to occur in light of geographical ancestry, if implications for drug development and global health are to be considered. Herein, we exploit ePGA, a web-based electronic Pharmacogenomics Assistant and publicly available genetic data from the 1000 Genomes Project to explore genotype to phenotype associations among the 1000 Genomes Project populations.

摘要

目前,药物反应中的种族和民族差异已得到充分研究和记录。药物基因组学研究旨在揭示个体间变异性的遗传基础,以实现量身定制的诊断与治疗。考虑到编码影响药物药代动力学和药效学的关键代谢酶和转运蛋白的药物基因的差异表达,我们建议,如果要考虑对药物开发和全球健康的影响,就需要根据地理血统进行数据解读和分析。在此,我们利用基于网络的电子药物基因组学助手ePGA和来自千人基因组计划的公开可用遗传数据,来探索千人基因组计划人群中的基因型与表型关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1dcb/5542428/007f0618a26f/pone.0182138.g001.jpg

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