|
rs2066844
|
|
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 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
NOD2/CARD15 R702W mutation was significantly more frequent in CD (9.8%) than in controls (2.4%, P = 0.001) and in UC (2.3%, P = 0.03).
|
18680223 |
2008 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Three mutations (R702W, G908R, and 1007fs) of the CARD15/NOD2 gene associate with Crohn's disease (CD).
|
17941079 |
2008 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
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 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Variants of CARD15 (3020insC and R702W) and IL23R (rs1004819, rs11209026, and rs1088967) were associated with CD.
|
18200510 |
2008 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
From the occurrence in the context of Crohn associated with R702W, we speculate that granulomatous rosacea may be an entity distinct from other forms of rosacea, which are associated with increased production of antibacterial proteins such as cathelicidin.
|
18616576 |
2008 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
In a multiple logistic regression model, the strongest association with CD was found for the 1007fs variant (OR = 4.6, 95% CI 3.0-7.0), followed by p.G908R (OR = 2.9, 95% CI 1.5-5.7) and p.R702W (OR = 1.7, 95% CI 1.0-2.9), while no independent association was found for the remaining variants in the CARD15 gene (p.268S, p.955I and p.289S), for the p.R620W variant in the PTPN22 gene or for the g.-308G>A variant in the TNFA gene.
|
18489434 |
2008 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
We genotyped the R702W, G908R and 1007fs variants, previously associated with CD, in TB cases and controls from the admixed South African Coloured population.
|
17113749 |
2007 |
|
rs2066844
|
|
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 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
GWASDB |
Systematic association mapping identifies NELL1 as a novel IBD disease gene.
|
17684544 |
2007 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
The single nucleotide variations R702W, G908R and L1007fs in the CARD15 gene have been found to be independently associated with Crohn's disease.
|
17489054 |
2007 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
GWASDB |
Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.
|
17804789 |
2007 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
We also present evidence to suggest that R702W may predispose to a more generalized form of CD.
|
17404888 |
2007 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Genomic DNA from 563 individuals (Crohn's disease: n = 205; ulcerative colitis: n = 154; controls: n = 204) was analyzed for the presence of the SELS-105G>A polymorphism and the three nucleotide-binding oligomerization domain-containing protein 2 (NOD2)/caspase recruitment domain-containing protein 15 (CARD15) variants p.Arg702Trp, p.Gly908Arg and p.Leu1007fsX1008.
|
17661913 |
2007 |
|
rs2066844
|
|
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 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
However, 40% of CD first degree relatives carrying a CARD15 3020insC mutation and 75% (3/4) of those CD-R with combined 3020insC and R702W mutations had increased intestinal permeability compared with only 15% of wild-types, indicating a genetic influence on barrier function.
|
16000642 |
2006 |
|
rs2066844
|
|
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 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Among the described CARD15 variants, G908R confers an increased susceptibility to CD, whereas the more frequently reported associations in Europeans with R702W and 1007fs are not confirmed in this Turkish population.
|
16614992 |
2006 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Genotyping of the three common CD-associated CARD15 variants (Arg702Trp, Gly908Arg and 1007finsC changes) with the SLC22A4 1672C-->T, and SLC22A5 -207G-->C mutations was performed by direct sequencing of the specific regions of these genes.
|
17006998 |
2006 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Association was found for Crohn's disease with R702W and 1007fsinsC, including several disease characteristics, and not for ulcerative colitis.
|
16920047 |
2006 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
UNIPROT |
We performed a limited DNA sequence analysis of the CARD15 gene in 89 patients with Crohn's disease (CD), 19 patients with ulcerative colitis (UC), and three patients with indeterminate colitis (IC), who were heterozygous carriers of one of the common CARD15 mutations [c.2104C>T (p.R702W), c.2722G>C (p.G908R), or c.3019_3020insC (p.Leu1007fsX1008)], the c.2462+10A>C variant, or of a new amino acid substitution in the 3'-end of exon 4.
|
16485124 |
2006 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
All patients and controls were genotyped for Arg702Trp (Hugot SNP8), Gly908Arg (Hugot SNP12), and Leu1007fsinsC (Hugot SNP13) and allele frequencies were compared between the Crohn's patients and controls.
|
16825909 |
2006 |
|
rs2066844
|
|
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 |
|
rs2066844
|
|
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 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Twenty-nine monozygotic twin pairs (concordant n=9, discordant n=20) with Crohn's disease and 192 healthy controls were investigated for the CARD15/NOD2 variants Arg702Trp, Gly908Arg and Leu1007fsinsC.
|
16002353 |
2005 |