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rs2066844
|
|
|
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.
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16002353 |
2005 |
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rs2066844
|
|
|
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 |
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rs2066844
|
|
|
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 |
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rs2066844
|
|
|
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 |
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rs2066844
|
|
|
1.000 |
GeneticVariation |
BEFREE |
Carriage of the Arg702Trp and Leu1007fsinsC allele within the CARD15/NOD2 gene is associated with CD.
|
16126943 |
2005 |
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rs2066844
|
|
|
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 |
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rs2066844
|
|
|
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 |
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rs2066844
|
|
|
1.000 |
GeneticVariation |
BEFREE |
Three risk alleles for Crohn's disease, (Arg702Trp (C/T), Gly908Arg (G/C) and 980fs981 (-/C), were recently identified in the CARD15/NOD2 gene on chromosome 16, implicating this as the IBD1 locus.
|
12556233 |
2003 |
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rs2066844
|
|
|
1.000 |
GeneticVariation |
BEFREE |
Activation of NOD2 in HEK293 cells overexpressing NOD2 induced the IL-17C promoter, an activity that was significantly reduced in cells overexpressing the Crohn's disease-associated NOD2 mutation 3020insC (1007fs) or the Crohn's disease- and atopic dermatitis-associated NOD2-R702W variant.
|
23892590 |
2014 |
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rs2066844
|
|
|
1.000 |
GeneticVariation |
BEFREE |
Associations of variations in the CARD15 gene (Arg702Trp, Gly908Arg and Leu1007fsinsC) and Crohn disease (CD) have been shown recently.
|
12940436 |
2003 |
|
rs2066844
|
|
|
1.000 |
GeneticVariation |
BEFREE |
Three polymorphisms in this gene (Arg702Trp rs2066844, Gly908Arg rs2066845 and Leu1007fsinsC rs5743293) have been associated with increased risk of the inflammatory bowel disease, the Crohn's disease.
|
20412372 |
2010 |
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rs2066844
|
|
|
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 |
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rs2066844
|
|
|
1.000 |
GeneticVariation |
BEFREE |
A case-control study of NOD2 polymorphisms known to be associated with Crohn's disease (CD) (Pro(268)Ser, Arg(702)Trp, Gly(908)Arg, and Leu(1007)fsinsC) was performed in 229 cases of primary AS with no diagnosed inflammatory bowel disease (IBD), 197 cases of AS associated with IBD (referred to as colitic spondylarthritis; comprising 78 with CD and 119 with ulcerative colitis [UC]), and 229 ethnically matched, healthy controls.
|
12115195 |
2002 |
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rs2066844
|
|
|
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 |
|
rs2066844
|
|
|
1.000 |
GeneticVariation |
BEFREE |
Its recurrent variants R702W, G908R and L1007fs have shown significant association with Crohn's disease (CD), but not with ulcerative colitis (UC), in different Caucasian populations.
|
14747834 |
2004 |
|
rs2066844
|
|
|
1.000 |
GeneticVariation |
UNIPROT |
Interaction between NOD2 and CARD9 involves the NOD2 NACHT and the linker region between the NOD2 CARDs and NACHT domain.
|
24960071 |
2014 |
|
rs2066844
|
|
|
1.000 |
GeneticVariation |
BEFREE |
Additionally, we show that the interaction of 8 NIPs is compromised with the 3 main CD associated NOD2 mutants (R702W, G908R and 1007fs).
|
27812135 |
2016 |
|
rs2066844
|
|
|
1.000 |
GeneticVariation |
BEFREE |
Three mutations (R702W, G908R, and 1007fs) of the CARD15/NOD2 gene associate with Crohn's disease (CD).
|
17941079 |
2008 |
|
rs2066844
|
|
|
1.000 |
GeneticVariation |
BEFREE |
In our population, all NOD2/CARD15 mutant genotypes, especially compound heterozygosity, were found to increase the risk of CD, but R702W was the sole allele showing a significant association with CD.
|
15095853 |
2004 |
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rs2066844
|
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|
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
|
|
|
1.000 |
GeneticVariation |
BEFREE |
Three mutations, Arg702Trp, Gly908Arg, and Leu1007fsinsC, are associated with CD.
|
15180737 |
2004 |
|
rs2066844
|
|
|
1.000 |
GeneticVariation |
UNIPROT |
Additionally, we show that the interaction of 8 NIPs is compromised with the 3 main CD associated NOD2 mutants (R702W, G908R and 1007fs).
|
27812135 |
2016 |
|
rs2066844
|
|
|
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
|
|
|
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 |
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rs2066844
|
|
|
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 |