Source: ALL

Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Twenty-nine monozygotic twin pairs (concordant n=9, discordant n=20) with Crohn's disease and 192 healthy controls were investigated for the CARD15/NOD2 variants Arg702Trp, Gly908Arg and Leu1007fsinsC. 16002353

2006

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
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

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE The allele frequencies of NOD2/CARD15 mutations (L1007finsC, G908R, R702W) were 8.7, 4.3 and 8.7%, respectively, in CD cases; 5.0, 4.2 and 3.1% in family members; 1.6, 2.3 and 3.1% in controls. 17160430

2007

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE We observed that the R702W and 1007fs Nod2 alleles and the A299G Tlr4 alleles were significantly more prevalent in patients with CD as compared to healthy controls or patients with ulcerative colitis. 16010583

2005

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE NOD2/CARD15 R702W mutation was significantly more frequent in CD (9.8%) than in controls (2.4%, P = 0.001) and in UC (2.3%, P = 0.03). 18680223

2008

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
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

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE We genotyped 550 CD patients for rs12212067 (FOXO3A) and the three common CD-associated NOD2 mutations rs2066844, rs2066847, and rs2066847 and performed genotype-phenotype analyses. 25365249

2015

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
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

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE However, 40% of CD first degree relatives carrying a CARD15 3020insC mutation and 75% (3/4) of those CD-R with combined 3020insC and R702W mutations had increased intestinal permeability compared with only 15% of wild-types, indicating a genetic influence on barrier function. 16000642

2006

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Its recurrent variants R702W, G908R and L1007fs have shown significant association with Crohn's disease (CD), but not with ulcerative colitis (UC), in different Caucasian populations. 14747834

2004

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
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

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Our aim was to evaluate the allele frequencies of the CARD15 variants R702W, G908R, and 1007fs in Finnish inflammatory bowel disease (IBD) patients and to search for possible associations between CARD15 variants and occurrence of familial forms of IBD or complicated forms of CD. 12631669

2003

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
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

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
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

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
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

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
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

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE We also present evidence to suggest that R702W may predispose to a more generalized form of CD. 17404888

2007

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
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

2011

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation GWASDB Systematic association mapping identifies NELL1 as a novel IBD disease gene. 17684544

2010

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
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

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Investigations into the inheritance of the three risk alleles R702W, G908R and 1007fsInsC in NOD2 associated with susceptibility to Crohn's disease have demonstrated a remarkable amount of heterogeneity across ethnicities and populations, with regional variation across Europe for example, suggesting local founder effects. 16773683

2006

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908

2017

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE The aim of this study was to assess the association between NOD2 polymorphisms and GDCD, and to assess the specific association between each of the 3 major allelic variants G908R, L1007P, and R702W and the clinical features of Crohn's disease. 16416181

2006

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE The CARD15 variants G908R and 1007fs, but not R702W, are associated with susceptibility to Crohn's disease in Galicia. 15056084

2004

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
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