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全基因组关联研究:重写炎症性肠病的故事

GWA studies: rewriting the story of IBD.

作者信息

Budarf Marcia L, Labbé Catherine, David Geneviève, Rioux John D

机构信息

Université de Montréal and the Montreal Heart Institute, Research Center, 5000 rue Belanger, Montreal, Quebec H1T 1C8, Canada.

出版信息

Trends Genet. 2009 Mar;25(3):137-46. doi: 10.1016/j.tig.2009.01.001. Epub 2009 Feb 13.

Abstract

Genome-wide association (GWA) studies are substantially improving our understanding of the molecular pathways leading to inflammatory bowel diseases (IBD). This is a result of the nature of these studies, which are comprehensive - leading to a dramatic increase in the number of validated genetic risk factors - and unbiased - leading to the identification of novel pathways not previously suspected in IBD. Such discoveries are not only driving the functional studies to understand the mechanisms by which genetic variants modify an individual's susceptibility to disease, but also hold the promise of guiding the development of more effective treatment strategies. In this review, we discuss how GWA studies are enabling us to rewrite the story of IBD pathogenesis, focusing on the interleukin-23 and autophagy pathways.

摘要

全基因组关联(GWA)研究正在极大地增进我们对导致炎症性肠病(IBD)的分子途径的理解。这得益于这些研究的特性,它们具有全面性——导致已验证的遗传风险因素数量大幅增加——以及无偏性——从而识别出IBD中以前未被怀疑的新途径。此类发现不仅推动了功能研究以了解基因变异改变个体疾病易感性的机制,还有望指导更有效治疗策略的开发。在这篇综述中,我们讨论GWA研究如何使我们能够重写IBD发病机制的故事,重点关注白细胞介素-23和自噬途径。

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