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 |
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 |
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 |
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 |
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 |
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
UNIPROT |
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 |
rs2066845
|
|
Crohn Disease
|
|
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 |
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 |
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 |
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
BEFREE |
An association was identified between Gly(908)Arg and UC spondylarthritis (P = 0.016, odds ratio [OR] 4.6, 95% confidence interval [95% CI] 1.3-16), and a nonsignificant trend with a similar magnitude was observed in association with CD spondylarthritis (P = 0.08, OR 3.9, 95% CI 0.8-18).
|
12115195 |
2002 |
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 |
An insertion mutation at nucleotide 3020 (3020insC) and a missense mutation G2722C in the CARD15 gene on chromosome 16p have been reported to be associated with Crohn's disease (CD).
|
12595906 |
2003 |
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
GWASCAT |
Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
|
26974007 |
2016 |
rs2066845
|
|
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 |
Ashkenazi Jews with CD had significantly higher allele frequency carriage of G908R and lower carriage of R702W compared with non-Jewish whites with CD.
|
12512038 |
2003 |
rs2066845
|
|
Crohn Disease
|
|
1.000 |
GeneticVariation
|
UNIPROT |
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.
|
11385576 |
2001 |
rs2066845
|
|
Crohn Disease
|
|
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 |
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 |
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 |
CARD15 is related to the NOD1/Apaf-1 family of apoptosis regulators, and three sequence variants (Arg702Trp, Gly908Arg, and Leu1007fsinsC) in the gene were demonstrated to be associated with CD.
|
12019468 |
2002 |
rs2066845
|
|
Crohn Disease
|
|
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 |
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 |
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 |