|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Investigations into the inheritance of the three risk alleles R702W, G908R and 1007fsInsC in NOD2 associated with susceptibility to Crohn's disease have demonstrated a remarkable amount of heterogeneity across ethnicities and populations, with regional variation across Europe for example, suggesting local founder effects.
|
16773683 |
2006 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
CARD15 mutation analysis in an Italian population: Leu1007fsinsC but neither Arg702Trp nor Gly908Arg mutations are associated with Crohn's disease.
|
15168811 |
2004 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
In the current study, the frequency of CARD15/NOD2 gene variants (R702W, G908R, L1007fs), previously associated with Crohn's disease--a common inflammatory bowel disease, have been examined in a group of 308 sporadic PD patients and 220 healthy controls.
|
17174426 |
2007 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
In this study, we demonstrate that membrane-bound versions of NOD2 and Crohn disease-associated mutants R702W and G908R are capable of responding to MDP and activating the NF-kappaB pathway from this location.
|
17355968 |
2007 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Previous studies have identified that genetic variations at rs2066844, rs2066845, rs2066847 are associated with diminished enteric α-defensins in ileal Crohn's disease (CD).
|
31403980 |
2019 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Three mutations (Arg702Trp, Gly908Arg and Leu1007fsinsC) within the NOD2/CARD15 gene increase CD susceptibility.
|
15198989 |
2004 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
A higher frequency of CARD15 mutations was found in AJ patients from multiplex families with CD from Central (44.0%) versus Eastern (24.0%) Europe, especially for G908R and 1007fs, and in SOJ patients (34.5%) compared with AJ (10.1%) or SOJ (5.4%) controls.
|
15024686 |
2004 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Sera from 303 patients were tested for antibodies to the Crohn's disease-related bacterial sequence (I2), anti-Escherichia coli outer membrane porin C, anti-Saccharomyces cerevisiae, and perinuclear antineutrophil cytoplasmic antibodies and for 3 Crohn's disease-associated variants of the NOD2 gene (R702W, G908R, and 1007fs) and compared with clinical data.
|
14762777 |
2004 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
For the remaining markers, a susceptibility role was attributed also confirming that markers on CARD15 gene, in particular G908R and L1007fsinsC, are involved with CD to the same extent as FcGIIIA G559T and TNF-alpha-G308A.
|
18804983 |
2009 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Mutations of Nod2 (R702W, G908R and 1007 fs) are associated with Crohn's disease and have lower stabilities compared to wild type.
|
29671171 |
2018 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
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 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Furthermore, the three main mutations of CARD15/NOD2 (R702W, G908R, and 1007fs) associated with susceptibility to Crohn's disease were not found in these patients.
|
16133969 |
2005 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Epidemiological studies have shown that three major CARD15 polymorphisms, R702W, G908R, and 1007fs, are associated with CD.
|
17020469 |
2006 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
The CARD15 variants R702W and G908R, but not 1007fs, are associated with susceptibility to CD in Stockholm County.
|
16716969 |
2006 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
In contrast to the strong associations of the NOD2 SNPs rs2066844 (p=3.51 x 10(-3)), rs2066845 (p=1.54 x 10(-2)), and rs2066847 (p=1.61 x 10(-20)) with CD susceptibility, no significant association of rs72796353 with CD or UC susceptibility was found.
|
26147989 |
2015 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Carrier frequency for the Gly908Arg mutation in CD and UC patients was 8/25 (32%) and 3/25 (12%), respectively (P = 0.08).
|
30430799 |
2018 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
An association was identified between Gly(908)Arg and UC spondylarthritis (P = 0.016, odds ratio [OR] 4.6, 95% confidence interval [95% CI] 1.3-16), and a nonsignificant trend with a similar magnitude was observed in association with CD spondylarthritis (P = 0.08, OR 3.9, 95% CI 0.8-18).
|
12115195 |
2002 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Variant 1007fsinsC (P=0.003) and G908R (P=0.008) but not R702W (P=0.269) alleles were more prevalent in Scottish CD (4.7, 1.8 and 7.1%, respectively) than Scottish control (2.3, 0.3 and 5.4%).
|
15190267 |
2004 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Thus, we searched for CD associated CARD15 gene variants R702W, G908R and 1007fs in 29 CNO patients, 4 of them additionally diagnosed with CD.
|
19579029 |
2010 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Both NOD2 mutations (G908R, P = 0.02, OR = 6.83, 95% CI = 1.62-25.45, and L1007fsinsC, P = 0.00, OR = 20.00, 95% CI = 3.21-124.69) were associated with CD.
|
18942754 |
2009 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Indeed, using a logistic regression model adding terms for age (differently distributed between cases and controls) and sex, a significantly increased risk of having Crohn's disease compared with healthy controls was found for all NOD2 mutations: Leu1007fsinsC (odds ratio=7.35; 95% confidence interval: 1.73-31.3), Gly908Arg (odds ratio=5.70; 95% confidence interval: 1.37-23.7) and Arg702Trp (odds ratio=2.45; 95% confidence interval: 1.10-5.47).
|
17301648 |
2007 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Three common NOD2 mutations are associated with Crohn's disease (p=5.08×10(-7), 1.67×10(-6), and 1.87×10(-2) for 1007fs, R720W, and G908R, respectively), but not with ulcerative colitis (p=0.1046, 0.1269, and 0.8929, respectively).
|
23709157 |
2013 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Blood samples from consecutive CD patients and healthy controls were obtained and analyzed for the three common mutations (R702W, G908R, 1007fs) but in addition to this, we also looked for the SNP5 and JW1 variants which are associated with CD in Ashkenazi Jews.
|
19426395 |
2009 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Our aim was to evaluate the allele frequencies of the CARD15 variants R702W, G908R, and 1007fs in Finnish inflammatory bowel disease (IBD) patients and to search for possible associations between CARD15 variants and occurrence of familial forms of IBD or complicated forms of CD.
|
12631669 |
2003 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Crohn's disease-associated NOD 2 variants (Arg702Trp and 3020insC) were found to be monomorphic (wild), and 7 subjects were heterozygous for Gly908Arg SNP in 263 patients with tuberculosis, 260 patients with leprosy and 270 healthy controls residing in northern Indian states.
|
22289211 |
2012 |