ATG16L1: A multifunctional susceptibility factor in Crohn disease
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ATG16L1 : A multifunctional susceptibility factor in Crohn disease. / Salem, Mohammad; Ammitzboell, Mette; Nys, Kris; Seidelin, Jakob Benedict; Nielsen, Ole Haagen.
In: Autophagy, Vol. 11, No. 4, 03.04.2015, p. 585-94.Research output: Contribution to journal › Journal article › Research › peer-review
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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 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.
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 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.
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
VL - 11
SP - 585
EP - 594
JO - Autophagy
JF - Autophagy
SN - 1554-8627
IS - 4
ER -
ID: 159822435