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将人类遗传变异与药物反应变异联系起来。

Relating human genetic variation to variation in drug responses.

机构信息

Committee on Clinical Pharmacology and Pharmacogenomics, The University of Chicago, Chicago, IL, USA.

出版信息

Trends Genet. 2012 Oct;28(10):487-95. doi: 10.1016/j.tig.2012.06.008. Epub 2012 Jul 26.

Abstract

Although sequencing a single human genome was a monumental effort a decade ago, more than 1000 genomes have now been sequenced. The task ahead lies in transforming this information into personalized treatment strategies that are tailored to the unique genetics of each individual. One important aspect of personalized medicine is patient-to-patient variation in drug response. Pharmacogenomics addresses this issue by seeking to identify genetic contributors to human variation in drug efficacy and toxicity. Here, we present a summary of the current status of this field, which has evolved from studies of single candidate genes to comprehensive genome-wide analyses. Additionally, we discuss the major challenges in translating this knowledge into a systems-level understanding of drug physiology, with the ultimate goal of developing more effective personalized clinical treatment strategies.

摘要

虽然十年前对人类基因组进行测序是一项艰巨的任务,但现在已经有超过 1000 个基因组被测序了。接下来的任务是将这些信息转化为针对每个人独特遗传学的个性化治疗策略。个性化医学的一个重要方面是药物反应的个体间差异。药物基因组学通过寻求识别药物疗效和毒性的人类变异的遗传贡献来解决这个问题。在这里,我们总结了这一领域的现状,它已经从对单个候选基因的研究发展到了全面的全基因组分析。此外,我们还讨论了将这些知识转化为药物生理学系统水平理解的主要挑战,最终目标是开发更有效的个性化临床治疗策略。

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