Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE The A allele and homozygous A/A genotype of the rs2241880 A/G polymorphism were protective against CD in the overall Malaysian and Malay population. 31654602 2020
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE ATG16L1 has been particularly well studied in knockout and hypomorph settings as well as models recapitulating the Crohn disease-associated T300A polymorphism. 31451676 2019
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation 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
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE In patients, the CD-associated ATG16L1 T300A single-nucleotide polymorphism did not attenuate azathioprine induction of autophagy. 30889246 2019
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation 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
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE Human macrophages with the Crohn's disease-associated Atg16l1 variant T300A exhibited more production of IFN-β and IL-1β. 29358708 2018
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE We found that both CD subjects and mice with ATG16L1T300A (T300A; a prevalent CD susceptibility allele) developed Paneth cell defects triggered by tobacco smoke. 30137026 2018
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation 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
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE The CD-risk allele, Thr300Ala, in ATG16L1 is associated with improved overall survival in human CRC, generating a rationale to genotype ATG16L1 Thr300Ala in patients with CRC. 25645662 2016
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE Unconventional autophagy mediated by the WD40 domain of ATG16L1 is derailed by the T300A Crohn disease risk polymorphism. 27541200 2016
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE Our results confirmed a significant association of CD with the following previously reported risk loci: rs3810936 in TNFSF15 (OR=1.83, p<2.2×10(-16)), rs76418789 in IL23R (OR=0.47, p=1.14×10(-8)) and rs2241880 in ATG16L1 (OR=1.30, p=5.28×10(-6)). 25731871 2016
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE The T300A Crohn's disease risk polymorphism impairs function of the WD40 domain of ATG16L1. 27273576 2016
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE In all tissues from our patient cohort and in PBMCs from a second healthy control cohort, subjects homozygous for the autophagy-related 16-like protein (ATG16L1) CD-associated gene variant (rs2241880), had low SHIP mRNA expression and activity. 26226011 2015
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE In this review, we focus on the importance of ATG16L1 and its genetic variant (T300A) within the elementary biological processes linked to Crohn disease. 25906181 2015
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE The polymorphism ATG16L1 T300A, associated with increased risk of Crohn's disease, impairs pathogen defense mechanisms including selective autophagy, but specific pathway interactions altered by the risk allele remain unknown. 26095365 2015
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE The ATG16L1-T300A allele impairs clearance of pathosymbionts in the inflamed ileal mucosa of Crohn's disease patients. 25253126 2015
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE Individuals who harbor a common coding polymorphism (Thr300Ala) within a structurally unclassified region of ATG16L1 are at increased risk for the development of Crohn disease. 25136803 2014
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE A single-nucleotide polymorphism (SNP) encoding a missense variant in the autophagy gene ATG16L1 (rs2241880, Thr300Ala) is strongly associated with the incidence of Crohn's disease. 24553140 2014
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE MAP, rs2241880 (ATG16L1) and rs10045431 (IL12B) were found to be significantly associated with CD. 24522266 2014
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE The ATG16L1 T300A polymorphism defines a specific subtype of patients with CD, characterised by Paneth cell ER stress even during quiescent disease. 23964099 2014
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE DC of pediatric patients with CD carrying the T300A allele showed a marked impairment of antigen uptake and processing and defective interactions between DC and intestinal epithelium. 24022642 2013
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation GWASDB A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. 22412388 2012
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE CD was associated with NOD2 carrier (6.93% CD, 2.15% Controls, P = 0.007), ATG16L1 Thr300Ala (36.1% CD, 29.3% Controls, P = 0.003), SLC22A4 and SLC22A5 (IBD5 locus) functional SNPs (Leu503Phe [10.5% CD, 7.6% Controls, P = 0.05] and g-207c [41.3% CD, 35.7% Controls, P = 0.03], respectively), and IL23R rs2201841 (18.2% CD, 13.8% Controls, P = 0.03), but not IRGM variants, nor three African ancestral NOD2 nonsynonymous variants.IBD5 risk was recessive. 22411504 2012
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation GWASCAT A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. 22412388 2012
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE Epistasis detected between 5p13.1 and ATG16L1 for CD susceptibility in the discovery cohort (p = 5.99×10⁻⁷ for rs7720838 and rs2241880) could not be replicated in both replication cohorts arguing against a major role of this gene-gene interaction in the susceptibility to CD. 23300802 2012