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从实验室到临床:遗传关联研究在药物基因组学中的成功——后 GWAS 时代精准医学的研究设计与实施。

The success of pharmacogenomics in moving genetic association studies from bench to bedside: study design and implementation of precision medicine in the post-GWAS era.

机构信息

Department of Biochemistry and Molecular Biology, The Huck Institutes of the Life Sciences, Center for Systems Genomics, Eberly College of Science, The Pennsylvania State University, University Park, PA 16802, USA.

出版信息

Hum Genet. 2012 Oct;131(10):1615-26. doi: 10.1007/s00439-012-1221-z. Epub 2012 Aug 25.

DOI:10.1007/s00439-012-1221-z
PMID:22923055
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3432217/
Abstract

Pharmacogenomics is emerging as a popular type of study for human genetics in recent years. This is primarily due to the many success stories and high potential for translation to clinical practice. In this review, the strengths and limitations of pharmacogenomics are discussed as well as the primary epidemiologic, clinical trial, and in vitro study designs implemented. A brief discussion of molecular and analytic approaches will be reviewed. Finally, several examples of bench-to-bedside clinical implementations of pharmacogenetic traits will be described. Pharmacogenomics continues to grow in popularity because of the important genetic associations identified that drive the possibility of precision medicine.

摘要

近年来,药物基因组学作为一种研究人类遗传学的热门方法逐渐兴起。这主要是因为它有许多成功案例,并且在向临床实践转化方面具有很高的潜力。在这篇综述中,我们讨论了药物基因组学的优势和局限性,以及所采用的主要流行病学、临床试验和体外研究设计。简要讨论了分子和分析方法。最后,描述了几个药物遗传学特征从实验室到临床应用的实例。药物基因组学之所以越来越受欢迎,是因为它确定了重要的遗传关联,从而推动了精准医学的发展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e88b/3432217/d1a4f4ad84c7/439_2012_1221_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e88b/3432217/d1a4f4ad84c7/439_2012_1221_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e88b/3432217/d1a4f4ad84c7/439_2012_1221_Fig1_HTML.jpg

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