|
Ulcerative Colitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This deficit is independent of concurrent active inflammation and cannot be seen in active small intestinal ulcerative colitis (UC; pouchitis) as well as NOD2 wild-type graft vs. host ileitis.
|
19079235 |
2008 |
|
Ulcerative Colitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Novel missense mutation in the NOD2 gene in a patient with early onset ulcerative colitis: causal or chance association?
|
24595243 |
2014 |
|
Ulcerative Colitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Importantly, ATG16L1 A300T and NOD2 variants were not associated with serologic responses in healthy controls and unoperated UC patients.
|
30265311 |
2019 |
|
Ulcerative Colitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To investigate these variants in CD and ulcerative colitis (UC), and their interaction with CARD15 gene and correlation to clinical subphenotypes.
|
16441470 |
2006 |
|
Ulcerative Colitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the mutational analyses of CARD15 in 453 patients with CD, including 166 sporadic and 287 familial cases, 159 patients with ulcerative colitis (UC), and 103 healthy control subjects.
|
11875755 |
2002 |
|
Ulcerative Colitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
NOD2 gene 3020insC frameshift mutation is not a major contributor to the susceptibility to both Crohn's disease and ulcerative colitis in Chinese Han patients.
|
15052696 |
2004 |
|
Ulcerative Colitis
|
0.700 |
Biomarker
|
disease |
BEFREE |
We investigated associations with disease susceptibility, phenotype, and evidence for epistasis with CARD15 in 679 patients with Crohn's disease (CD) or ulcerative colitis (UC).
|
16344054 |
2005 |
|
Ulcerative Colitis
|
0.700 |
Biomarker
|
disease |
BEFREE |
The data suggest that IBD1 may also contribute to susceptibility to ulcerative colitis, and that it is likely to be located in the 12 cM interval between D16S419 and D16S409.
|
9541106 |
1998 |
|
Ulcerative Colitis
|
0.700 |
GeneticVariation
|
disease |
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), rs2066845" genes_norm="64127">Gly908Arg (rs2066845) and Leu1007insC (rs2066847), as well as IL23R - rs11209026;rs901312933" genes_norm="149233;55054">Arg381Gln (rs11209026) and ATG16L1 - rs2241880;s2241880;rs1384936174" genes_norm="55054;64127">Thr300Ala (rs2241880).
|
20082483 |
2010 |
|
Ulcerative Colitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Interpretation The insertion mutation in the NOD2 gene confers a substantially increased susceptibility to Crohn's disease but not to ulcerative colitis.
|
11425413 |
2001 |
|
Ulcerative Colitis
|
0.700 |
Biomarker
|
disease |
BEFREE |
In contrast, PAB and GAB antibodies were not associated with NOD2/CARD15 or TLR4, response to medical therapy, or need for surgery.No associations were found in UC.
|
18972554 |
2009 |
|
Ulcerative Colitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Loci meeting suggestive significance for inflammatory bowel disease were 2q, 3q, 5q, 7q and 16 (NOD2/CARD15 region); Crohn's disease, 2q, 3q, 6p, 16 (NOD2/CARD15 region), 17q, 19p; and ulcerative colitis, 2q.
|
14976156 |
2004 |
|
Ulcerative Colitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Crohn's disease, but not ulcerative colitis, is associated with genetic variation in NOD2 and an autophagy gene, ATG16L1, both of which affect the intracellular processing of bacterial components.
|
18500230 |
2008 |
|
Ulcerative Colitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Polymorphisms of NOD2 (R702W, G908R and L1007fs) and TLR4 (Asp299Gly and Thr399Ile) genes were analyzed in 106 patients with IBD (68 with ulcerative colitis [UC], 38 with Crohn's disease [CD]) and 160 healthy controls using polymerase chain reaction-restriction fragment length polymorphism.
|
29055077 |
2017 |
|
Ulcerative Colitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our results are consistent with the presence of a major gene in the IBD1 region close to D16S408 involved in both UC and CD.
|
11093274 |
2000 |
|
Ulcerative Colitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The presence of NOD2 allelic variants was primarily associated with fibrostenosis, secondarily with small bowel disease and small bowel surgery, and was inversely associated with UC-like disease.
|
20027650 |
2010 |
|
Ulcerative Colitis
|
0.700 |
Biomarker
|
disease |
LHGDN |
Additionally, 51.67% of the CD patients were carriers of a TLR4 and/or CD14 polymorphic allele and at least one variant of the NOD2/CARD15, compared to 27% of the UC patients.
|
15655821 |
2005 |
|
Ulcerative Colitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Forty-four percent of patients with CD were positive for >or=1 mutant allele of NOD2/CARD15 compared to 2% of UC patients (p < 0.001) and 19% of healthy twins (p= 0.02).
|
16279904 |
2005 |
|
Ulcerative Colitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The most striking is 16q12 (IBD1), which linked only with CD not UC in the majority of studies.
|
12918095 |
2003 |
|
Ulcerative Colitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute to the development of UC and NOD2-P268S might be involved in the etiology of CD in the Chinese Han population.
|
22426692 |
2012 |
|
Ulcerative Colitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To investigate the contribution of three polymorphisms of MYO9B gene for predisposition to Crohn's disease and ulcerative colitis, their association with clinical phenotypes, particularly intestinal permeability, and possible interaction with the CARD15 gene.
|
17944996 |
2008 |
|
Ulcerative Colitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The total frequency of the mutated NOD2 chromosomes was higher in CD (13%), than in HC (8%) and UC (5%).
|
26167078 |
2015 |
|
Ulcerative Colitis
|
0.700 |
Biomarker
|
disease |
BEFREE |
A population-based case-control study of CARD15 and other risk factors in Crohn's disease and ulcerative colitis.
|
17100976 |
2007 |
|
Ulcerative Colitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recent studies from India have reported an association with UC and a single polymorphism (SNP) in CARD15/NOD2 (SNP5, rs2066842), which has not been reported in Caucasian UC cohorts.
|
24145928 |
2013 |
|
Ulcerative Colitis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The frequency of NOD2/CARD15 gene mutations is high in CD and UC among Bedouin Arab IBD patients and is associated with younger age at onset in CD and male gender.
|
30430799 |
2018 |