|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Compared to HC, the frequencies of all three variants in CD were significantly increased: 8.7% versus 4.1% for R702W (p < 0.006), 7.3% versus 2.7% for G908R (p < 0.002), 9.3% versus 0.7% for L1007finsC (p < 0.00001).
|
15654786 |
2005 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
One hundred thirty patients with CD and 90 healthy individuals were genotyped for the three common NOD2 variants (C2104T in exon 4, G2722C in exon 8, and 3020insC in exon 11).
|
15712650 |
2005 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Three common NOD2 mutations -- 3020insC, G908R and R702W -- have been shown to be associated with chronic inflammatory disease such as Crohn's disease, the 3020insC also with human malignancy colorectal cancer.
|
15785318 |
2005 |
|
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 |
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 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
We observed that the R702W and 1007fs Nod2 alleles and the A299G Tlr4 alleles were significantly more prevalent in patients with CD as compared to healthy controls or patients with ulcerative colitis.
|
16010583 |
2005 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
In contrast, PBMCs from a patient homozygous for the Nod2 R702W mutation, also associated with Crohn disease, displayed normal response to Gram-negative bacterial peptidoglycan.
|
16115863 |
2005 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Carriage of the Arg702Trp and Leu1007fsinsC allele within the CARD15/NOD2 gene is associated with CD.
|
16126943 |
2005 |
|
rs2066844
|
|
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 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Arg702Trp, Gly908Arg, and Leu1007fsinsC mutations in the NOD2/CARD15 gene are associated with Crohn's disease in Caucasians.
|
16133971 |
2005 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
The aim of this study was to assess the association between NOD2 polymorphisms and GDCD, and to assess the specific association between each of the 3 major allelic variants G908R, L1007P, and R702W and the clinical features of Crohn's disease.
|
16416181 |
2005 |
|
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 |
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 |
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 |
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 |
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 |
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
|
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 |
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 |
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 |
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 |
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
|
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 |
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
|
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 |