|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
507 unrelated CD patients were genotyped for the three major CD-associated variants (Arg702Trp, Gly908Arg, and Leu1007fsinsC) and for thirteen HLA-DRB1 alleles.
|
15046222 |
2004 |
|
rs771184127
|
|
Crohn Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
90 patients with CD and 80 healthy individuals are genotyped for the Asp299Gly and Thr399Ile polymorphisms by restriction fragment length polymorphism analysis.
|
19664207 |
2009 |
|
rs2066844
|
|
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 |
|
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 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
R702W is not associated with susceptibility to CD in Ashkenazi Jews.
|
12512038 |
2003 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
G908R allele-variant of the NOD2/CARD15 gene is closely related with the appearance of CD at a young age in Jewish Ashkenazi patients.
|
15289769 |
2004 |
|
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 |
|
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 |
|
rs5743291
|
|
Crohn Disease
|
|
0.710 |
GeneticVariation
|
BEFREE |
955V/I carriage was no higher in CD or ulcerative colitis patients (12.8 and 15.8%, respectively) compared to controls (16.2%).
|
18563169 |
2008 |
|
rs2066842
|
|
Crohn Disease
|
|
0.790 |
GeneticVariation
|
BEFREE |
P268S polymorphism may be associated with CD susceptibility in the Zhuang population in the Guangxi Zhuang Autonomous Region, China.
|
24782627 |
2014 |
|
rs771184127
|
|
Crohn Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
D299G and T399I were related to CD only in patients carrying NOD2 variants (NOD2+/TLR4+ haplotype) (p=0.036; OR=1.924), increasing the risk to develop CD when 1007insC and TLR4 variants were both present (OR=4.886).
|
27290609 |
2016 |
|
rs2066844
|
|
Crohn Disease
|
|
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 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
A frameshift mutation (Leu1007fsinsC) and two missense mutations (Gly908Arg and Arg702Trp) in the NOD2/CARD15 gene are strongly associated with susceptibility to Crohn's disease.
|
15202784 |
2004 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
A frameshift mutation (Leu1007fsinsC) and two missense mutations (Gly908Arg and Arg702Trp) in the NOD2/CARD15 gene are strongly associated with susceptibility to Crohn's disease.
|
15202784 |
2004 |
|
rs3135500
|
|
Crohn Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
A heterozygous single nucleotide polymorphism rs3135500 C > Y in the exon 12.3 was detected in a 10-year-old girl with mild severity of CD and history of rectovaginal and perianal fistula, and multiple skin tags.
|
22139875 |
2011 |
|
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 |
|
rs2066844
|
|
Crohn Disease
|
|
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 |
|
rs2066844
|
|
Crohn Disease
|
|
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
|
|
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 |
|
rs2066845
|
|
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 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
All three common Crohn's disease-associated variants are associated with small bowel involvement, the G908R and 1007fsinsC alleles also being associated with a complicated disease course.
|
16920047 |
2006 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Alterations in this gene were found in many Caucasian patients with CD; in particular, two nonsynonymous substitutions (R702W and G908R) and a frameshift mutation (1007fs) were shown to be independent risk factors for CD.
|
12202985 |
2002 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Alterations in this gene were found in many Caucasian patients with CD; in particular, two nonsynonymous substitutions (R702W and G908R) and a frameshift mutation (1007fs) were shown to be independent risk factors for CD.
|
12202985 |
2002 |
|
rs2066845
|
|
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 |
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 |