a Broad Institute ; Cambridge , MA USA.
b Center for Computational and Integrative Biology ; Massachusetts General Hospital ; Boston , MA USA.
Autophagy. 2018;14(2):216-220. doi: 10.1080/15548627.2017.1389358. Epub 2018 Jan 29.
The discovery of numerous genetic variants in the human genome that are associated with inflammatory bowel disease (IBD) has revealed critical pathways that play important roles in intestinal homeostasis. These genetic studies have identified a critical role for macroautophagy/autophagy and more recently, lysosomal function, in maintaining the intestinal barrier and mucosal homeostasis. This review highlights recent work on the functional characterization of IBD-associated human genetic variants in cell type-specific functions for autophagy.
人类基因组中发现的许多与炎症性肠病 (IBD) 相关的遗传变异揭示了在肠道稳态中发挥重要作用的关键途径。这些遗传研究表明,巨自噬/自噬作用,以及最近溶酶体功能,在维持肠道屏障和黏膜稳态方面发挥着关键作用。本文综述了最近在细胞类型特异性自噬功能方面对 IBD 相关人类遗传变异的功能特征分析的工作。