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: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.500 Biomarker group LHGDN The association of ATG16L1 with Crohn's disease and possibly with ulcerative colitis supports a role for autophagy in the pathogenesis of inflammatory bowel disease. 17484864 2007
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.500 GeneticVariation group BEFREE No significant association was observed between IL23R genotype or ATG16L1 genotype and IBD subphenotypes. 17894849 2007
CUI: C0267380
Disease: Crohn's disease of the ileum
Crohn's disease of the ileum 		0.310 Biomarker disease CTD_human Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 17435756 2007
CUI: C0156147
Disease: Crohn's disease of large bowel
Crohn's disease of large bowel 		0.300 Biomarker disease CTD_human Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 17435756 2007
CUI: C0678202
Disease: Regional enteritis
Regional enteritis 		0.300 Biomarker disease CTD_human Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 17435756 2007
CUI: C0949272
Disease: IIeocolitis
IIeocolitis 		0.300 Biomarker disease CTD_human Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 17435756 2007
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.200 GeneticVariation disease BEFREE IL23R was associated with CD and UC only in the absence of CARD15 mutations, whereas ATG16L1 was associated with CD in the presence and absence of CARD15 mutations. 17894849 2007
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.200 GeneticVariation disease BEFREE The ATG16L1 risk genotype showed a modest but significant association with ulcerative colitis (P = .026). 17484864 2007
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.200 Biomarker disease LHGDN The ATG16L1 risk genotype showed a modest but significant association with ulcerative colitis (P = .026). 17484864 2007
CUI: C2931133
Disease: Pediatric Crohn's disease
Pediatric Crohn's disease 		0.020 Biomarker disease BEFREE The use of techniques such as whole genome association studies to perform broad, unbiased screening for the contributions of common genetic variations to complex disease has rapidly assisted in the identification of several novel susceptibility loci associated with pediatric-onset Crohn's disease such as IL23R and ATG16L1. 17600381 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 Biomarker disease BEFREE With the recent completion of the human genome project, whole genome association studies (WGAS) have now become possible and have identified additional genes (IL23R, IRGM, PTGER4, ATG16L1) for Crohn's disease and ulcerative colitis, that have subsequently been replicated. 18473763 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 GeneticVariation disease BEFREE The critical next step is functional characterization of the CD-associated genetic variants in IRGM and ATG16L. 17921695 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 GeneticVariation disease GWASDB Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. 18587394 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 GeneticVariation disease BEFREE All nine ATG16L1 gene variants analyzed displayed highly significant associations with CD demonstrating a CD-protective effect for the minor allele. 18162085 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 Biomarker disease CTD_human We also show that several risk loci are common to ulcerative colitis and Crohn's disease (IL23R, IL12B, HLA, NKX2-3 and MST1), whereas autophagy genes ATG16L1 and IRGM, along with NOD2 (also known as CARD15), are specific for Crohn's disease. 18438406 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 Biomarker disease LHGDN With respect to ATG16L1, the G allele of SNP rs2241880 has been shown in multiple association studies to confer strong risk for CD, although its association with UC remains more debatable. 18366306 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 GeneticVariation disease BEFREE With respect to ATG16L1, the G allele of SNP rs2241880 has been shown in multiple association studies to confer strong risk for CD, although its association with UC remains more debatable. 18366306 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 Biomarker disease LHGDN Thus, we propose that the association of ATG16L1*300A with increased risk of Crohn's disease is due to impaired bacterial handling and lowered rates of bacterial capture by autophagy. 18852889 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 GeneticVariation disease BEFREE Importantly, Crohn's disease patients homozygous for the ATG16L1 Crohn's disease risk allele displayed Paneth cell granule abnormalities similar to those observed in autophagy-protein-deficient mice and expressed increased levels of leptin protein. 18849966 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 Biomarker disease BEFREE There was no association with any of the known CD susceptibility loci (NOD2, IBD5, NOD1, IL23R, ATG16L1) and isolated colonic CD. 18521924 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 GeneticVariation disease GWASCAT Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. 18587394 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 GeneticVariation disease BEFREE Multivariate analysis showed independent CD association for carriers of ATG16L1 (odds ratio [OR] = 1.8, 95% confidence interval [CI] 1.09-3.24), IBD5-IGR2230 (OR = 2.16, 95% CI 1.30-3.59), and IL23R-rs10889677 (OR = 2.13, 95% CI 1.39-3.28) while retaining association for NOD2 mutation carriers (OR = 4.45, 95% CI 2.68-7.38), IBD family history (OR = 2.75, 95% CI 1.42-5.31), tobacco (OR = 2.06, 95% CI 1.35-3.14), and Jewish ethnicity (OR = 20.1, 95% CI 2.16-186.8). 18521914 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 GeneticVariation disease BEFREE Five hundred eighteen Dutch white IBD patients (311 CD and 207 UC, including 176 trios of patients with both parents), 508 celiac disease patients, and 893 healthy controls were studied for association with the rs11209026 (IL23R) and rs2241880 (ATG16L1) single nucleotide polymorphisms (SNP). 18047540 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 GeneticVariation disease BEFREE Several promising associations between Crohn's disease and gene variants have been identified and replicated, the two most widely replicated being variants in the IL23R and ATG16L1 genes. 18622155 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 Biomarker disease BEFREE ATG16L1 and NOD2 were found to contribute independently to CD risk. 18671817 2008