ATG16L1, autophagy related 16 like 1, 55054

N. diseases: 120; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE Two SNPs (rs2241880 and rs6754677) in the ATG16L1 gene were significantly associated with the onset of CD in the Malaysian population. 31654602 2020
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE One of those four patients was homozygous for the ATG16L1 Crohn's disease-associated gene variant but had no history of inflammatory bowel disease. 31692018 2020
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE In patients, the CD-associated ATG16L1 T300A single-nucleotide polymorphism did not attenuate azathioprine induction of autophagy. 30889246 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 Biomarker disease BEFREE Interestingly, ATG16L1 has a single homolog, ATG16L2, which is independently implicated in diseases, including Crohn disease and systemic lupus erythematosus. 31451676 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE ATG16L1 polymorphisms have been linked to the development of Crohn's disease (CD), and phosphorylation of CD-associated ATG16L1 T300A (caATG16L1) has been hypothesized to contribute to cleavage and autophagy dysfunction. 31267703 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE Antichitobioside was positive in 28% of patients with CD carrying the ATG16L1 A300T variant (either heterozygote or homozygote) compared with only 3% in those without the variant (P < 0.001). 30265311 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 Biomarker disease BEFREE Here we report an integrative analysis of an expanded number of Crohn's disease (CD) related genetic defects in innate immune function (NOD2, ATG16L1, IRGM, CARD9, XBP1, ORMDL3) and composition of the ileal microbiome by combining the initial patient cohort (Batch 1, 2005-2010, n = 165) with a second consecutive patient cohort (Batch 2, 2010-2012, n = 118). 30818349 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE Low serum zinc levels predict presence of depression symptoms, but not overall disease outcome, regardless of ATG16L1 genotype in Crohn's disease patients. 29487628 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 Biomarker disease BEFREE Gene-gene interaction analysis revealed significant interactions between MST1 and other susceptibility genes, including NOD2, MUC19 and ATG16L1 in contributing to Crohn's disease risk. 29441677 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 Biomarker disease BEFREE In this study we studied the role of autophagy genes like IRGM (Immunity related GTPase M) and ATG16L1 (Autophagy related 16 like 1) in the pathogenesis of Crohn's Disease in Iranian patients. 29960072 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 Biomarker disease BEFREE Mutations in the NOD2 (the intracellular sensor of bacteria) or ATG16L1 (autophagy protein) genes are susceptibility traits for Crohn's, and epithelia lacking either protein displayed enhanced IL-8 production in comparison to wild-type cells when exposed to DNP + E coli. 30030553 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE Human macrophages with the Crohn's disease-associated Atg16l1 variant T300A exhibited more production of IFN-β and IL-1β. 29358708 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE Conclusion In this meta-analysis, the ATG16L1 genotype was significantly associated with the risk of developing Crohn's disease. 27698206 2017
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE Defective autophagic machinery, such as that in Crohn's disease patients homozygous for ATG16L1 risk allele, is associated with alteration of resident gut bacterial communities. 28466260 2017
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE Recently, SHIP1 activity was shown to be correlated to the presence of a CD-associated single nucleotide polymorphism in ATG16L1. 28767696 2017
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE A genetic risk factor associated specifically with Crohn's disease is a variant in ATG16L1 that reduces autophagy. 27435106 2017
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908 2017
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 Biomarker disease BEFREE Using the National Health Insurance claims data, we collected data on patients diagnosed with IBD [10,049 with ulcerative colitis (UC) and 5595 with Crohn's disease (CD)] from 2011 to 2014. 28593437 2017
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 Biomarker disease BEFREE This study revealed that ATG16L1 deficiency led to alterations in macrophage function that contribute to the severity of CD. 28130498 2017
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE Impaired Paneth cell expression of antimicrobial protein (AMP) lysozyme is found in patients with Crohn's disease with the autophagy gene ATG16L1 risk allele, in mice with mutations in autophagy genes Atg16L1, Atg5 and Atg7, and in Irgm1 knockout mice. 28770667 2017
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE In this study, we report that mice with Atg16l1 deletion in intestinal epithelial cells (IECs) spontaneously develop transmural ileitis phenocopying ileal CD in an age-dependent manner, driven by the endoplasmic reticulum (ER) stress sensor IRE1α. 28082357 2017
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE The ATG16L1 gene was genotyped for ten different SNPs using DNA extracted from peripheral blood of 234 patients with Crohn's disease (CD), 249 patients with ulcerative colitis (UC) and 393 healthy controls The SNPs rs2241880, rs4663396, rs3792106, rs10210302, rs3792109, rs2241877, rs6737398, rs11682898, rs4663402 and rs4663421 were genotyped using the Sequenom MassArray platform. 28542425 2017
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE Recently, a non-synonymous single-nucleotide polymorphism in ATG16L1 (Thr300Ala), previously identified as a risk factor in Crohn's disease (CD), was associated with more favourable clinical outcomes in thyroid cancer. 25645662 2016
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 AlteredExpression disease BEFREE ATG16L1 and LC3 expression was analyzed in the inflamed ileum and colon of 28 patients with Crohn's disease (CD), 14 with ulcerative colitis (UC) and 23 controls by western blot. 27335178 2016
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016