Common alleles that influence autophagy and the risk for inflammatory bowel disease

被引:34
作者
Gardet, Agnes [1 ,2 ]
Xavier, Ramnik J. [1 ,2 ,3 ,4 ]
机构
[1] Massachusetts Gen Hosp, Ctr Study Inflammatory Bowel Dis, Gastrointestinal Unit, Boston, MA 02114 USA
[2] Massachusetts Gen Hosp, Ctr Computat & Integrat Biol, Boston, MA 02114 USA
[3] Harvard Univ, Broad Inst, Cambridge, MA 02138 USA
[4] MIT, Cambridge, MA 02139 USA
关键词
GENOME-WIDE ASSOCIATION; SYSTEMIC-LUPUS-ERYTHEMATOSUS; INTESTINAL PANETH CELLS; CROHNS-DISEASE; SUSCEPTIBILITY LOCI; IL-1-BETA PRODUCTION; IMPAIRED AUTOPHAGY; GENE ATG16L1; IRGM; MITOPHAGY;
D O I
10.1016/j.coi.2012.08.001
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
071005 [微生物学]; 100108 [医学免疫学];
摘要
Genetic studies of inflammatory bowel disease (IBD) have identified multiple risk loci that contain genes involved in autophagy. Although autophagy was traditionally considered to be a homeostatic response to ensure the recycling of cellular materials, it has now been additionally established to have roles in immunity and inflammation. In this review, we highlight how genetics have begun to identify a broader role for autophagy as a key pathway in Crohn's disease (CD). We review recent studies that have implicated autophagy in the regulation of mucosal homeostasis, including roles in intracellular defense, vesicular trafficking, and inflammatory signaling. Finally, we discuss studies that have begun to demonstrate how CD risk polymorphisms cause defects in autophagy and promote a breakdown of intestinal homeostasis.
引用
收藏
页码:522 / 529
页数:8
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