Source: BEFREE

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 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

2016

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 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 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

2013

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 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 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

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
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

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
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

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
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

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
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

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Granulomatous rosacea and Crohn's disease in a patient homozygous for the Crohn-associated NOD2/CARD15 polymorphism R702W. 18616576

2009

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Variants of CARD15 (3020insC and R702W) and IL23R (rs1004819, rs11209026, and rs1088967) were associated with CD. 18200510

2008

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 BEFREE Three mutations (R702W, G908R, and 1007fs) of the CARD15/NOD2 gene associate with Crohn's disease (CD). 17941079

2008

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
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

2007

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 In this study, we demonstrate that membrane-bound versions of NOD2 and Crohn disease-associated mutants R702W and G908R are capable of responding to MDP and activating the NF-kappaB pathway from this location. 17355968

2007

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 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 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 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 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

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE Carriage of the Arg702Trp and Leu1007fsinsC allele within the CARD15/NOD2 gene is associated with CD. 16126943

2006

dbSNP: rs2066844
rs2066844
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation BEFREE In contrast, PBMCs from a patient homozygous for the Nod2 R702W mutation, also associated with Crohn disease, displayed normal response to Gram-negative bacterial peptidoglycan. 16115863

2006