|
rs2241880
|
ATG16L1;SCARNA5
|
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 |
|
rs2241880
|
ATG16L1;SCARNA5
|
Crohn Disease
|
|
0.900 |
GeneticVariation |
BEFREE |
The association of ATG16L1 T300A with CD was confirmed [P = 0.004, odds ratio (OR) = 1.69, 95% CI: 1.19-2.41], and both IL23R variants were found to represent significant risk for the disease (P = 0.008, OR = 2.05, 95% CI: 1.20-3.50 for rs1004819 AA; P < 0.001, OR = 2.97, 95% CI: 1.65-5.33 for rs2201841 CC).
|
20066736 |
2010 |
|
rs2241880
|
ATG16L1;SCARNA5
|
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 |
|
rs2241880
|
ATG16L1;SCARNA5
|
Crohn Disease
|
|
0.900 |
GeneticVariation |
BEFREE |
In conclusion, our results confirm the ATG16L1 rs2241880 and IRGM rs13361189 and rs4958847 polymorphisms as important markers for CD susceptibility and indicate that these variants are also associated with UC.
|
19491842 |
2009 |
|
rs2241880
|
ATG16L1;SCARNA5
|
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 |
|
rs2241880
|
ATG16L1;SCARNA5
|
Crohn Disease
|
|
0.900 |
GeneticVariation |
BEFREE |
We replicated the previously reported associations between CD and rs11209026 and rs2241880, confirming that IL23R and ATG16L1 are susceptibility loci for CD in the New Zealand population.
|
17894849 |
2007 |
|
rs2241880
|
ATG16L1;SCARNA5
|
Crohn Disease
|
|
0.900 |
GeneticVariation |
BEFREE |
For ATG16L1, the rs2241880 SNP was associated with CD susceptibility (OR 1.36, CI 1.12-1.66, P= 0.0017).
|
18047540 |
2008 |
|
rs2241880
|
ATG16L1;SCARNA5
|
Crohn Disease
|
|
0.900 |
GeneticVariation |
GWASDB |
Systematic association mapping identifies NELL1 as a novel IBD disease gene.
|
17684544 |
2007 |
|
rs2241880
|
ATG16L1;SCARNA5
|
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 |
|
rs2241880
|
ATG16L1;SCARNA5
|
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 |
|
rs2241880
|
ATG16L1;SCARNA5
|
Crohn Disease
|
|
0.900 |
GeneticVariation |
BEFREE |
As no epistatic interaction with three common NOD2/CARD15 mutations was observed, the p.Thr300Ala substitution is an independent risk factor for paediatric CD and supports the role for autophagy in disease pathogenesis.
|
19659808 |
2009 |
|
rs2241880
|
ATG16L1;SCARNA5
|
Crohn Disease
|
|
0.900 |
GeneticVariation |
BEFREE |
The ATG16L1 gene variants rs2241879 and rs2241880 (T300A) are strongly associated with susceptibility to Crohn's disease in the German population.
|
18162085 |
2008 |
|
rs2241880
|
ATG16L1;SCARNA5
|
Crohn Disease
|
|
0.900 |
GeneticVariation |
BEFREE |
IL23R R381Q and ATG16L1 T300A are strongly associated with Crohn's disease in a study of New Zealand Caucasians with inflammatory bowel disease.
|
17894849 |
2007 |
|
rs2241880
|
ATG16L1;SCARNA5
|
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 |
|
rs2241880
|
ATG16L1;SCARNA5
|
Crohn Disease
|
|
0.900 |
GeneticVariation |
BEFREE |
One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (UC)] and 186 healthy controls were genotyped for the following known genetic susceptibility variants: NOD2 - Arg702Trp (rs2066844), Gly908Arg (rs2066845) and Leu1007insC (rs2066847), as well as IL23R - Arg381Gln (rs11209026) and ATG16L1 - Thr300Ala (rs2241880).
|
20082483 |
2010 |
|
rs2241880
|
ATG16L1;SCARNA5
|
Crohn Disease
|
|
0.900 |
GeneticVariation |
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 |
|
rs2241880
|
ATG16L1;SCARNA5
|
Crohn Disease
|
|
0.900 |
GeneticVariation |
BEFREE |
We found a statistically significant interaction with respect to Crohn disease risk between rs2241880 and the established CARD15 susceptibility variants (P = 0.039).
|
17200669 |
2007 |
|
rs2241880
|
ATG16L1;SCARNA5
|
Crohn Disease
|
|
0.900 |
GeneticVariation |
BEFREE |
Genotyping for CARD15 (R702W, G908R, 3020insC), IL23R (rs1004819, rs7517847, rs11209026, rs10889677, rs1495965), and ATG16L1 (rs2241880) was performed in 187 children and adults with CD and 255 healthy ethnically matched controls.
|
18200510 |
2008 |
|
rs2241880
|
ATG16L1;SCARNA5
|
Crohn Disease
|
|
0.900 |
GeneticVariation |
BEFREE |
We confirm the strong association between T300A and CD, specifically ileal subphenotype, and also report the first strong association of this variant with UC.
|
18671817 |
2008 |
|
rs2241880
|
ATG16L1;SCARNA5
|
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 |
|
rs2241880
|
ATG16L1;SCARNA5
|
Crohn Disease
|
|
0.900 |
GeneticVariation |
BEFREE |
The rs2241880A/G variant of the ATG16L1 gene has been associated with susceptibility to ileal Crohn's disease (CD) in adults.
|
18088053 |
2008 |
|
rs2241880
|
ATG16L1;SCARNA5
|
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 |
|
rs2241880
|
ATG16L1;SCARNA5
|
Crohn Disease
|
|
0.900 |
GeneticVariation |
BEFREE |
This meta-analysis suggests that the G allele of ATG16L1 T300A is a low-penetrant gene for developing CD in Caucasians.
|
19337756 |
2009 |
|
rs2241880
|
ATG16L1;SCARNA5
|
Crohn Disease
|
|
0.900 |
GeneticVariation |
BEFREE |
We confirmed a strong association between three NOD2/CARD15 gene variants (Pro268Ser, OR = 2.52, 95% CI = 1.34-4.75); (Arg702Trp, OR = 6.65, 95% CI = 1.99-22.17); (1007fs, OR = 9.59, 95% CI = 3.94-23.29), and a weak association between both the protective OCTN1/OCTN2 CC haplotype (OR = 0.28, 95% CI = 0.08-0.94), and a variant of ATG16L1 gene (Thr300Ala, OR = 0.468, 95% CI = 0.24-0.90) with Crohn's disease.
|
18715515 |
2008 |
|
rs2241880
|
ATG16L1;SCARNA5
|
Crohn Disease
|
|
0.900 |
GeneticVariation |
BEFREE |
An association of variants in the genes encoding the interleukin 23 receptor (IL23R, p.Arg381Gln, rs11209026), and the autophagy-related gene 16-like 1 (ATG16L1, p.Ala197Thr, rs2241880) with Crohn disease (CD) was identified by whole genome association studies, and subsequently confirmed by other works.
|
19590455 |
2009 |