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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
0.900 |
GeneticVariation
|
BEFREE |
The T300A Crohn's disease risk polymorphism impairs function of the WD40 domain of ATG16L1.
|
27273576 |
2016 |
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
0.900 |
GeneticVariation
|
BEFREE |
MAP, rs2241880 (ATG16L1) and rs10045431 (IL12B) were found to be significantly associated with CD.
|
24522266 |
2014 |
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
|
|
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
|
|
0.900 |
GeneticVariation
|
GWASDB |
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
|
22412388 |
2012 |
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
|
|
0.900 |
GeneticVariation
|
GWASCAT |
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
|
22412388 |
2012 |
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 |