rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Cycloheximide (CHX)-chase half-life assays have been used to show that O-GlcNAcylation increases the stability and response of both wild type and Crohn's variant Nod2, R702W.
|
29671171 |
2018 |
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 |
In addition, the NOD2 variant rs2066844, which is associated with susceptibility to Crohn's disease, was significantly correlated with an impairment in MBL-MASP functional activity.
|
27404661 |
2016 |
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
None of the patients with orofacial granulomatosis carried any of the NOD2 variations, whereas four of the 12 patients with coexisting Crohn's disease had a NOD2 variant (Arg702Trp).
|
24645728 |
2015 |
rs2066844
|
|
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 |
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
In a case-control design, 204 Algerian with CD diagnosed for at least 5years and 201 controls were included were genotyped for single nucleotide polymorphisms (SNP) in the NOD2/CARD15 gene R702W (SNP8, rs2066844), G908R (SNP12, rs2066845) and IL23R R381Q (rs11209026) gene variants were determined using the TaqMan SNP genotyping assays.
|
24679666 |
2014 |
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 |
Only two patients with early onset Crohn's disease exhibited rare deleterious variations within NOD2: the previously described R702W variant was the sole NOD2 variant in one patient, while the second patient also carried the L1007 frameshift insertion.
|
22543157 |
2013 |
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 |
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
An association with CD was found for the classical single nucleotide polymorphism (SNP) 1007fs (2.6% CD, 0% HC, P = 0.012); there was no association when the genotypic and allelic frequencies of the risk alleles were compared for SNPs R702W and G908R.
|
22447396 |
2012 |
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Three main variants of this gene: two single nucleotide polymorphisms p.Arg702Trp and p.Gly908Arg substitutions and frameshift polymorphism p.Leu1007fsinsC are involved in susceptibility to Crohn's disease.
|
22266421 |
2012 |
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Three new variations (P371T, A794P, and Q908H) and R702W mutation were significantly more frequent in Crohn's disease patients compared to controls.
|
21274544 |
2011 |
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Three NOD2/CARD15 variants, namely two missense polymorphisms R702W (rs2066844) and G908R (rs2066845), and a frame shift polymorphism L1007fs (rs2066847), were associated with CD in Caucasian populations.
|
21734346 |
2011 |
rs2066844
|
|
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 |
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
The allele frequency in the 25 patients diagnosed with CNO but not CD was not different from that already reported in healthy people (R702W 4.0%, G908R 2.0%, 1007fs 2.0%).
|
19579029 |
2010 |
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Genomic DNA from 2700 Caucasians including 812 patients with Crohn's disease (CD), 442 patients with ulcerative colitis (UC), and 1446 healthy controls was analyzed for the NOD2 SNPs rs2066843 and rs2076756 and the three main CD-associated NOD2 variants p.Arg702Trp (rs2066844), p.Gly908Arg (rs2066847), and p.Leu1007fsX1008 (rs2066847).
|
21209938 |
2010 |
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Genotyping for the NOD2 variants in exon 4 (p.Arg702Trp [rs2066844]), exon 8 (p.Gly908Arg [rs2066845]), and exon 11 (p.1007fs [rs2066847]) was performed in 52 white children with HD (41 boys, 11 girls), 152 healthy controls, and 152 children with CD (onset of disease <17 years; mean, 11.8 years).
|
20850627 |
2010 |
rs2066844
|
|
Crohn Disease
|
|
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 |
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
NOD2/CARD15 is involved in the innate immune response and three polymorphisms in this gene (Arg702Trp rs2066844, Gly908Arg rs2066845 and Leu1007fsinsC rs5743293) have been associated with risk of the rare Crohn's disease.
|
19570052 |
2010 |
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
It has been shown previously that three nucleotide-binding oligomerization domain containing 2 (NOD2) variants (Arg702Trp, Gly908Arg and Lue1007fs) are associated with Crohn's disease (CD), a disorder clinically resembling Behçet's disease (BD).
|
19748964 |
2009 |
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
The per-allele risk of Crohn disease was markedly higher for Leu1007fsinsC than for Arg702Trp and Gly908Arg.
|
19713276 |
2009 |
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 |
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 |
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 |