present in Gene: NOD2
present in Chromosome: 16
Position on Chromosome: 50722629
Alleles of this Variant: G/C;T
rs2066845 in
NOD2 gene and
Ankylosing spondylitis
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
rs2066845 in
NOD2 gene and
Cholangitis, Sclerosing
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
rs2066845 in
NOD2 gene and
Crohn Disease
PMID 11385576 2001 Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
PMID 24790089 2014 The molecular chaperone HSP70 binds to and stabilizes NOD2, an important protein involved in Crohn disease.
PMID 18587394 2008 Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
PMID 17684544 2007 Systematic association mapping identifies NELL1 as a novel IBD disease gene.
PMID 17804789 2007 Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.
PMID 24960071 2014 Interaction between NOD2 and CARD9 involves the NOD2 NACHT and the linker region between the NOD2 CARDs and NACHT domain.
PMID 27812135 2016 Additionally, we show that the interaction of 8 NIPs is compromised with the 3 main CD associated NOD2 mutants (R702W, G908R and 1007fs).
PMID 15024686 2004 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.
PMID 16485124 2006 We performed a limited DNA sequence analysis of the CARD15 gene in 89 patients with Crohn's disease (CD), 19 patients with ulcerative colitis (UC), and three patients with indeterminate colitis (IC), who were heterozygous carriers of one of the common CARD15 mutations [c.2104C>T (p.R702W), c.2722G>C (p.G908R), or c.3019_3020insC (p.Leu1007fsX1008)], the c.2462+10A>C variant, or of a new amino acid substitution in the 3'-end of exon 4.
rs2066845 in
NOD2 gene and
Psoriasis
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
rs2066845 in
NOD2 gene and
Regional enteritis
PMID 19713276 2009 Genotyping for NOD2 genetic variants and crohn disease: a metaanalysis.
PMID 15190267 2004 NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe?
PMID 15198989 2004 Regulation of IL-8 and IL-1beta expression in Crohn's disease associated NOD2/CARD15 mutations.
PMID 21548950 2011 Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study.
PMID 15571588 2004 Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: a metaanalysis.
PMID 18489434 2008 Variants of CARD15, TNFA and PTPN22 and susceptibility to Crohn's disease in the Czech population: high frequency of the CARD15 1007fs.
PMID 15024686 2004 Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families.
PMID 15571588 2004 Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: a metaanalysis.
PMID 15190267 2004 NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe?
PMID 19713276 2009 Genotyping for NOD2 genetic variants and crohn disease: a metaanalysis.
PMID 12512038 2003 Crohn's disease-associated NOD2 variants share a signaling defect in response to lipopolysaccharide and peptidoglycan.
PMID 21548950 2011 Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study.
PMID 15024686 2004 Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families.
PMID 18489434 2008 Variants of CARD15, TNFA and PTPN22 and susceptibility to Crohn's disease in the Czech population: high frequency of the CARD15 1007fs.
rs2066845 in
NOD2 gene and
Ulcerative Colitis
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
rs2066845 in
NOD2 gene and
Yao syndrome
PMID 21914217 2011 A new category of autoinflammatory disease associated with NOD2 gene mutations.
PMID 26070941 2015 NOD2-associated autoinflammatory disease: a large cohort study.