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全基因组关联研究:药物发现与开发的进展及潜力

Genome-wide association studies: progress and potential for drug discovery and development.

作者信息

Kingsmore Stephen F, Lindquist Ingrid E, Mudge Joann, Gessler Damian D, Beavis William D

机构信息

National Center for Genome Resources, 2935 Rodeo Park Drive East, Santa Fe, New Mexico 87505, USA.

出版信息

Nat Rev Drug Discov. 2008 Mar;7(3):221-30. doi: 10.1038/nrd2519.

Abstract

Although genetic studies have been critically important for the identification of therapeutic targets in Mendelian disorders, genetic approaches aiming to identify targets for common, complex diseases have traditionally had much more limited success. However, during the past year, a novel genetic approach - genome-wide association (GWA) - has demonstrated its potential to identify common genetic variants associated with complex diseases such as diabetes, inflammatory bowel disease and cancer. Here, we highlight some of these recent successes, and discuss the potential for GWA studies to identify novel therapeutic targets and genetic biomarkers that will be useful for drug discovery, patient selection and stratification in common diseases.

摘要

尽管基因研究对于确定孟德尔疾病的治疗靶点至关重要,但旨在确定常见复杂疾病靶点的传统基因方法取得的成功一直较为有限。然而,在过去一年中,一种新的基因方法——全基因组关联(GWA)——已证明其有潜力识别与糖尿病、炎症性肠病和癌症等复杂疾病相关的常见基因变异。在此,我们重点介绍其中一些近期的成功案例,并讨论GWA研究在识别新的治疗靶点和基因生物标志物方面的潜力,这些靶点和标志物将有助于常见疾病的药物研发、患者选择和分层。

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