|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Previous studies have identified that genetic variations at rs2066844, rs2066845, rs2066847 are associated with diminished enteric α-defensins in ileal Crohn's disease (CD).
|
31403980 |
2019 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Mutations of Nod2 (R702W, G908R and 1007 fs) are associated with Crohn's disease and have lower stabilities compared to wild type.
|
29671171 |
2018 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Carrier frequency for the Gly908Arg mutation in CD and UC patients was 8/25 (32%) and 3/25 (12%), respectively (P = 0.08).
|
30430799 |
2018 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Polymorphisms of NOD2 (R702W, G908R and L1007fs) and TLR4 (Asp299Gly and Thr399Ile) genes were analyzed in 106 patients with IBD (68 with ulcerative colitis [UC], 38 with Crohn's disease [CD]) and 160 healthy controls using polymerase chain reaction-restriction fragment length polymorphism.
|
29055077 |
2017 |
|
rs2066845
|
|
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 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Three common NOD2 mutations are associated with Crohn's disease (p=5.08×10(-7), 1.67×10(-6), and 1.87×10(-2) for 1007fs, R720W, and G908R, respectively), but not with ulcerative colitis (p=0.1046, 0.1269, and 0.8929, respectively).
|
23709157 |
2013 |
|
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 |
|
rs2066845
|
|
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 |
|
rs2066845
|
|
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 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Colon-only CD (n = 228) was compared with healthy controls: three of six UC SNPs (in MST1, HLA-DRA, and IL-23R) and 11 of 34 CD SNPs: in IRGM, NOD2 (rs2066845), CCNY, MST1, IL23R, PTPN22, C11orf30, ZNF365, PTPN2, PSMG1, and rs1456893 were significantly associated.
|
21830272 |
2011 |
|
rs2066845
|
|
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 |
|
rs2066845
|
|
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 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Thus, we searched for CD associated CARD15 gene variants R702W, G908R and 1007fs in 29 CNO patients, 4 of them additionally diagnosed with CD.
|
19579029 |
2010 |
|
rs2066845
|
|
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 |
|
rs2066845
|
|
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 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Particular mutations of the NOD2 gene are associated with Crohn's disease including gly908arg, leu1007finsc and arg702trp polymorphisms.
|
20646002 |
2010 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
The 3 NOD2 single-nucleotide polymorphism mutations (rs2066844, rs2066845, and rs2066847) previously identified as associated with Crohn's disease were genotyped using polymerase chain reaction.
|
20940596 |
2010 |
|
rs2066845
|
|
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 |
|
rs2066845
|
|
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 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
For the remaining markers, a susceptibility role was attributed also confirming that markers on CARD15 gene, in particular G908R and L1007fsinsC, are involved with CD to the same extent as FcGIIIA G559T and TNF-alpha-G308A.
|
18804983 |
2009 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Both NOD2 mutations (G908R, P = 0.02, OR = 6.83, 95% CI = 1.62-25.45, and L1007fsinsC, P = 0.00, OR = 20.00, 95% CI = 3.21-124.69) were associated with CD.
|
18942754 |
2009 |
|
rs2066845
|
|
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 |
|
rs2066845
|
|
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 |
|
rs2066845
|
|
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 |
|
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
Three mutations (R702W, G908R, and 1007fs) of the CARD15/NOD2 gene associate with Crohn's disease (CD).
|
17941079 |
2008 |