ATG16L1: A multifunctional susceptibility factor in Crohn disease

被引：145

作者：

Salem, Mohammad ^{[1
]}

Ammitzboell, Mette ^{[1
]}

Nys, Kris ^{[2
]}

Seidelin, Jakob Benedict ^{[1
]}

Nielsen, Ole Haagen ^{[1
]}

机构：

[1] Univ Copenhagen, Herlev Hosp, Dept Gastroenterol, Med Sect, Copenhagen, Denmark

[2] Katholieke Univ Leuven, Dept Clin & Expt Med, Translat Res Ctr Gastrointestinal Disorders, Leuven, Belgium

来源：

AUTOPHAGY | 2015年 / 11卷 / 04期

关键词：

ATG16L1; autophagy; bacterial clearance; Crohn disease; endoplasmic reticulum stress; NOD2; GENOME-WIDE ASSOCIATION; AUTOPHAGY GENE ATG16L1; INTESTINAL EPITHELIAL-CELLS; PANETH CELLS; REGULATES AUTOPHAGY; SELECTIVE AUTOPHAGY; IMPAIRED AUTOPHAGY; INHIBITS AUTOPHAGY; DENDRITIC CELLS; T300A VARIANT;

D O I：

10.1080/15548627.2015.1017187

中图分类号：

Q2 [细胞生物学];

学科分类号：

071013 [干细胞生物学];

摘要：

Genetic variations in the autophagic pathway influence genetic predispositions to Crohn disease. Autophagy, the major lysosomal pathway for degrading and recycling cytoplasmic material, constitutes an important homeostatic cellular process. Of interest, single-nucleotide polymorphisms in ATG16L1 (autophagy-related 16-like 1 [S. cerevisiae]), a key component in the autophagic response to invading pathogens, have been associated with an increased risk of developing Crohn disease. The most common and well-studied genetic variant of ATG16L1 (rs2241880; leading to a T300A conversion) exhibits a strong association with risk for developing Crohn disease. The rs2241880 variant plays a crucial role in pathogen clearance, resulting in imbalanced cytokine production, and is linked to other biological processes, such as the endoplasmic reticulum stress/unfolded protein response. In this review, we focus on the importance of ATG16L1 and its genetic variant (T300A) within the elementary biological processes linked to Crohn disease.

引用

页码：585 / 594

页数：10

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