|
rs2241880
|
|
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
|
|
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 |
|
rs2241880
|
|
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
|
|
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
|
|
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
|
|
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 |
|
rs2241880
|
|
Crohn Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The ATG16L1 T300A polymorphism contributes to susceptibility to CD and UC in adults, but different in children, which implicates a role for autophagy in the pathogenesis of IBD.
|
20222171 |
2010 |
|
rs2241880
|
|
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 |
|
rs2241880
|
|
Crohn Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Nod2-dependent signaling was not impaired in cells with the ATG16L1 T300A genotype, which is associated with CD.
|
20637199 |
2010 |
|
rs2241880
|
|
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
|
|
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
|
|
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
|
|
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 |
|
rs2241880
|
|
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
|
|
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 |
|
rs2241880
|
|
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
|
|
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
|
|
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
|
|
Crohn Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
A single common coding variant in the autophagy protein ATG16L1 predisposes individuals to the development of Crohn's disease: while ATG16L1 encoding threonine at amino acid position 300 (ATG16L1*300T) confers protection, ATG16L1 encoding for alanine instead of threonine (ATG16L1*300A, also known as T300A) mediates risk towards the development of Crohn's disease.
|
18852889 |
2008 |
|
rs2241880
|
|
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
|
|
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 |
|
rs2241880
|
|
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
|
|
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 |
|
rs2241880
|
|
Crohn Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Most cases were male (55.4%), had disease location L3 +/- L4 (56.7%), and an inflammatory phenotype B1 +/- p (87.2%) at diagnosis. rs2241880 (ATG16L1) was strongly associated with CD (allelic P = 1.24 x 10(-6)).
|
18985712 |
2009 |
|
rs2241880
|
|
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 |