ATG16L1: A multifunctional susceptibility factor in Crohn disease

TY - JOUR

T1 - ATG16L1

T2 - A multifunctional susceptibility factor in Crohn disease

AU - Salem, Mohammad

AU - Ammitzboell, Mette

AU - Nys, Kris

AU - Seidelin, Jakob Benedict

AU - Nielsen, Ole Haagen

PY - 2015/4/3

Y1 - 2015/4/3

N2 - 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 wellstudied 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.

AB - 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 wellstudied 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.

KW - Animals

KW - Autophagy

KW - Carrier Proteins

KW - Crohn Disease

KW - Endoplasmic Reticulum Stress

KW - Genetic Predisposition to Disease

KW - Humans

KW - Polymorphism, Single Nucleotide

U2 - 10.1080/15548627.2015.1017187

DO - 10.1080/15548627.2015.1017187

M3 - Journal article

C2 - 25906181

SN - 1554-8627

VL - 11

SP - 585

EP - 594

JO - Autophagy

JF - Autophagy

IS - 4

ER -