ATG16L1: A multifunctional susceptibility factor in Crohn disease

Mohammad Salem, Mette Ammitzboell, Kris Nys, Jakob Benedict Seidelin, Ole Haagen Nielsen

102 Citations (Scopus)

Abstract

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.

Original languageEnglish
JournalAutophagy
Volume11
Issue number4
Pages (from-to)585-94
Number of pages10
ISSN1554-8627
DOIs
Publication statusPublished - 3 Apr 2015

Fingerprint

Dive into the research topics of 'ATG16L1: A multifunctional susceptibility factor in Crohn disease'. Together they form a unique fingerprint.

Cite this