|
rs1384936174
|
|
|
0.100 |
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 |
|
rs1384936174
|
|
|
0.100 |
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 |
|
rs1384936174
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The CD associated T300A variant is located in the c-terminal WD40 domain, whose function is still unknown.
|
21146253 |
2011 |
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rs1384936174
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Nod2-dependent signaling was not impaired in cells with the ATG16L1 T300A genotype, which is associated with CD.
|
20637199 |
2010 |
|
rs1384936174
|
|
|
0.100 |
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 |
|
rs1384936174
|
|
|
0.100 |
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 |
|
rs1384936174
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The Thr300Ala polymorphism is associated with CD, regardless of the CARD15 or IL23R status, but not with UC.
|
19575361 |
2009 |
|
rs1384936174
|
|
|
0.100 |
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 |
|
rs1384936174
|
|
|
0.100 |
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 |
|
rs1384936174
|
|
|
0.100 |
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 |
|
rs1384936174
|
|
|
0.100 |
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 |
|
rs1384936174
|
|
|
0.100 |
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 |
|
rs1384936174
|
|
|
0.100 |
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 |