|
rs2241880
|
|
Crohn Disease
|
G |
0.900 |
GeneticVariation
|
GWASDB |
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
|
22412388 |
2012 |
|
rs2241880
|
|
Crohn Disease
|
G |
0.900 |
GeneticVariation
|
GWASCAT |
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
|
22412388 |
2012 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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
|
GWASDB |
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
|
18587394 |
2008 |
|
rs2241880
|
|
Crohn Disease
|
G |
0.900 |
GeneticVariation
|
GWASDB |
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis.
|
17435756 |
2007 |
|
rs2241880
|
|
Crohn Disease
|
G |
0.900 |
GeneticVariation
|
GWASCAT |
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis.
|
17435756 |
2007 |
|
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 |
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 |
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 |
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
|
|
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 |
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 |
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 |
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 |