|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
UNIPROT |
The molecular chaperone HSP70 binds to and stabilizes NOD2, an important protein involved in Crohn disease.
|
24790089 |
2014 |
|
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 |
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 |
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 |
Variant 1007fsinsC (P=0.003) and G908R (P=0.008) but not R702W (P=0.269) alleles were more prevalent in Scottish CD (4.7, 1.8 and 7.1%, respectively) than Scottish control (2.3, 0.3 and 5.4%).
|
15190267 |
2004 |
|
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 |
R702W is not associated with susceptibility to CD in Ashkenazi Jews.
|
12512038 |
2003 |
|
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 |
Three mutations (Arg702Trp, Gly908Arg and Leu1007fsinsC) within the NOD2/CARD15 gene increase CD susceptibility.
|
15198989 |
2004 |
|
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 |
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 |
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 |
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 |
Variants of CARD15 (3020insC and R702W) and IL23R (rs1004819, rs11209026, and rs1088967) were associated with CD.
|
18200510 |
2008 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
UNIPROT |
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.
|
11385576 |
2001 |
|
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 |
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 |
Three mutations (R702W, G908R, and 1007fs) within the CARD15 gene have been identified as independent risk factors for the development of Crohn's disease (CD).
|
15527324 |
2004 |
|
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 |
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
|
GWASCAT |
Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
|
28067908 |
2017 |
|
rs2066844
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
The allelic variants in the NOD2/CARD15 gene G908R, R702W, and 1007fs are strongly and independently associated with susceptibility to Crohn's disease (CD).
|
15289769 |
2004 |
|
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 |
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
|
GWASDB |
Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.
|
17804789 |
2007 |