|
rs2241880
|
|
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 |
|
rs2241880
|
|
Crohn Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The CD associated T300A variant is located in the c-terminal WD40 domain, whose function is still unknown.
|
21146253 |
2011 |
|
rs2241880
|
|
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
|
|
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
|
|
Crohn Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Homozygosity for the minor (T) allele of the ATG16L1 T216A polymorphism was strongly protective for CD (P=0.0001, odds ratio=0.51, 95% confidence interval 0.38-0.68).
|
19276991 |
2009 |
|
rs2241880
|
|
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
|
|
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 |
|
rs2241880
|
|
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
|
|
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 |
|
rs2241880
|
|
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
|
|
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
|
|
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
|
|
Crohn Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The Thr300Ala polymorphism is associated with CD, regardless of the CARD15 or IL23R status, but not with UC.
|
19575361 |
2009 |
|
rs2241880
|
|
Crohn Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The T300A Crohn's disease risk polymorphism impairs function of the WD40 domain of ATG16L1.
|
27273576 |
2016 |
|
rs2241880
|
|
Crohn Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The association of T300A was replicated in the independent sample of 727 Crohn's disease cases (P = .001), and was strongly associated in the extended analysis of 1236 Crohn's cases (P = 2.4 x 10(-6)).
|
17484864 |
2007 |
|
rs2241880
|
|
Crohn Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The association appeared to be confined to the nsSNP rs2,241,880 and was confirmed in 2 German independent case-control collections (combined P = 4.0 x 10(-8), odds ratio [OR] 1.45; 95% confidence interval [CI]: 1.21-1.74), a CD transmission disequilibrium test (TDT) collection, and an independent UK cohort.
|
17455206 |
2007 |
|
rs2241880
|
|
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
|
|
Crohn Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
MAP, rs2241880 (ATG16L1) and rs10045431 (IL12B) were found to be significantly associated with CD.
|
24522266 |
2014 |
|
rs2241880
|
|
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 |
|
rs2241880
|
|
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 |
|
rs2241880
|
|
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 |
|
rs2241880
|
|
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
|
|
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
|
|
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 |
|
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 |