SNP information rs2066844

Research and publications:

  11385576   Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.

  11875755   CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease.

  12512038   NOD2 variants associated with Crohn's disease share a defect in signal transduction in response to lipopolysaccharide and peptidoglycan.

  15955786   Polymorphisms of cation transporter genes DLG5 and OCTN in Crohn's disease.

  15967635   Analysis of the three common mutations in the CARD15 gene (R702W, G908R and 1007fs) in South African colored patients with inflammatory bowel disease.

  16380915   Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4

  16519819   Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases.

  17327408   Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival

  17684544   Systematic association mapping identifies NELL1 as a novel IBD disease gene.

  17708757   Genome bioinformatic analysis of nonsynonymous SNPs.

  17786191   rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: a combined analysis of IL23R, CARD15 and OCTN1/2 variants.

  18070336   CD209 in inflammatory bowel disease: a case-control study in the Spanish population.

  18382655   Maternal TLR4 and NOD2 gene variants, pro-inflammatory phenotype and susceptibility to early-onset preeclampsia and HELLP syndrome.

  18541930   Frequency of three common mutations of CARD15/NOD2 gene in Iranian IBD patients.

  18576390   Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis.

  18633131   Host immune gene polymorphisms in combination with clinical and demographic factors predict late survival in diffuse large B-cell lymphoma patients in the pre-rituximab era

  18650832   MAST3: a novel IBD risk factor that modulates TLR4 signaling.

  18698678   Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy.

  18715515   Lack of evidence linking primary sclerosing cholangitis and primary biliary cirrhosis with Crohn's disease risk alleles in Polish patients.

  18756601   OCTN and CARD15 gene polymorphism in Chinese patients with inflammatory bowel disease.

  19147066   Genomic and proteomic analysis of allogeneic hematopoietic cell transplant outcome. Seeking greater understanding the pathogenesis of GVHD and mortality

  19185283   Searching for genotype-phenotype structure: using hierarchical log-linear models in Crohn disease.

  19337309   Specific association of the CLEC16A/KIAA0350 polymorphism with NOD2/CARD15(-) patients with Crohn's disease.

  19435634   Three-cohort targeted gene screening reveals a non-synonymous TRKA polymorphism associated with schizophrenia.

  19570052   NOD2/CARD15 genotype and common gastrointestinal diseases in 43,600 individuals.

  19843337   Investigation of innate immunity genes CARD4, CARD8 and CARD15 as germline susceptibility factors for colorectal cancer.

  20066736   Interaction of major susceptibility alleles to inflammatory bowel disease in patients with Crohn's disease.

  20082483   NOD2, IL23R and ATG16L1 polymorphisms in Lithuanian patients with inflammatory bowel disease.

  20155851   NOD2 status and human ileal gene expression.

  20177049   Insufficient evidence for association of NOD2/CARD15 or other inflammatory bowel disease-associated markers on GVHD incidence or other adverse outcomes in T-replete, unrelated donor transplantation.

  20228799   Genome-wide association identifies multiple ulcerative colitis susceptibility loci.

  20371648   Penetrance of NOD2/CARD15 genetic variants in the general population.

  20412372   NOD2/CARD15 genotype, cardiovascular disease and cancer in 43,600 individuals from the general population.

  20434130   Interpretation of association signals and identification of causal variants from genome-wide association studies.

  20485703   A replication and meta-analysis of 13,000 cases determines the risk of interleukin-23 receptor and autophagy-related 16-like variants 1 in Crohn's disease.

  20646321   Toll-like receptor (TLR) and nucleosome-binding oligomerization domain (NOD) gene polymorphisms and endometrial cancer risk.

  20827186   Defining genetic risk for graft-versus-host disease and mortality following allogeneic hematopoietic stem cell transplantation

  20839241   Disease phenotype and genotype are associated with shifts in intestinal-associated microbiota in inflammatory bowel diseases.

  20846217   Association of linear growth impairment in pediatric Crohn's disease and known growth locus: a pilot study.

  20876667   Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

  20886065   Molecular reclassification of Crohn's disease by cluster analysis of genetic variants.

  20940596   NOD2/CARD15 mutations correlate with severe pouchitis after ileal pouch-anal anastomosis.

  20959815   NOD2 gene polymorphism rs2066844 associates with need for combined liver-intestine transplantation in children with short-gut syndrome.

  21079743   Interaction of Crohn's disease susceptibility genes in an Australian pediatric cohort.

  21090563   Blockade of cytotoxic T-lymphocyte antigen-4 by ipilimumab results in dysregulation of gastrointestinal immunity in patients with advanced melanoma.

  21209938   NOD2 single nucleotide polymorphisms rs2066843 and rs2076756 are novel and common variants of the Crohn's disease susceptibility gene.

  21217814   Presymptomatic risk assessment for chronic non-communicable diseases.

  21253534   The IL23R and IL12B SNPs and haplotypes are strongly associated with the risk of Crohn's disease in the New Zealand population.

  21304977   An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.

  21333900   The role of genetics in IBS

  21391291   The combination of genetic and quantitative serological immune markers is associated with a complicated course of Crohn's disease.

  21548950   Evaluation of 22 genetic variants with risk for Crohn's disease in an Ashkenazi Jewish population: a case-control study.

  21559399   CEACAM6 gene variants in inflammatory bowel disease.

  21573154   Characterization of changes in serum antiglycan antibodies in Crohn's disease - longitudinal analysis.

  21730793   The influence of risk alleles for Crohn's disease and smoking on the location of the disease.

  21734790   NOD2 and ATG16L1 polymorphisms influence monocyte response in Crohn's disease.

  21745515   Role of NOD1/CARD4 and NOD2/CARD15 gene polymorphisms in cancer etiology.

  21752155   Genetic susceptibility to inflammation and colonic transit in lower functional gastrointestinal disorders: preliminary analysis.

  21818367   Investigation of multiple susceptibility loci for inflammatory bowel disease in an Italian cohort of patients.

  21830272   Different and overlapping genetic loci in Crohn's disease and ulcerative colitis: correlation with pathogenesis.

  21936032   Digesting the genetics of inflammatory bowel disease: insights from studies of autophagy risk genes.

  22113576   Polymorphisms in immune function genes and non-Hodgkin lymphoma survival.

  22123319   A prospective phase II trial exploring the association between tumor microenvironment biomarkers and clinical activity of ipilimumab in advanced melanoma.

  22152681   Dissecting the genetics of complex inheritance: linkage disequilibrium mapping provides insight into Crohn disease.

  22269043   Clinical predictors of inflammatory bowel disease in a genetically well-defined Caucasian population.

  22275320   Pattern recognition receptor and autophagy gene variants are associated with antimicrobial antibody production in Crohn's disease.

  22346247   The role of ATG16L, NOD2 and IL23R in the pathogenesis of Crohn's disease.

  22427729   Inherited variation in pattern recognition receptors and cancer: dangerous liaisons?

  22440928   Perianal Crohn's disease: prognostic factors and genotype-phenotype correlations.

  22457781   Variants in the PTPN2 gene are associated with susceptibility to both Crohn's disease and ulcerative colitis, supporting a common genetic basis for the disease.

  22544929   IRF5 risk polymorphisms contribute to interindividual variance in pattern recognition receptor-mediated cytokine secretion in human monocyte-derived cells.

  22563200   Association of NOD1 and NOD2 genes polymorphisms with Helicobacter pylori related gastric cancer in a Chinese population.

  22654485   Role of cytokines in systemic lupus erythematosus: recent progress from GWAS and sequencing.

  22662111   Polymorphisms in Toll-like receptors 2, 4, and 9 are highly associated with hearing loss in survivors of bacterial meningitis.

  22719818   Inflammatory bowel diseases phenotype, C. difficile and NOD2 genotype are associated with shifts in human ileum associated microbial composition.

  22742424   Lactase persistence, NOD2 status and Mycobacterium avium subsp. paratuberculosis infection associations to Inflammatory Bowel Disease.

  23119165   NOD2 Polymorphisms and Their Impact on Haematopoietic Stem Cell Transplant Outcome.

  23300620   Genotype/phenotype analysis of 53 genetic polymorphisms associated with Crohn's disease.

  23300802   Polymorphisms modulating PTGER4 expression in the 5p13.1 region predispose to Crohn's disease and affect NF-κB and XBP1 binding sites.

  23365659   IRGM variants and susceptibility to inflammatory bowel disease in the German population.

  23651603   P268S in NOD2 is associated with Parkinson's disease susceptibility in a Chinese population.

  23946381   Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence.

  24033266   A systematic approach to assessing the clinical significance of genetic variants.

  24176007   Potential association of pulmonary tuberculosis with genetic polymorphisms of toll-like receptor 9 and interferon-gamma in a Chinese population.

  24200957   Irritable bowel syndrome-diarrhea: characterization of genotype by exome sequencing, and phenotypes of bile acid synthesis and colonic transit.

  24223725   Intestinal DMBT1 expression is modulated by IL23R variants associated with Crohn's disease and a DMBT1 variant that affects the binding of the transcription factors CREB1 and ATF-2.

  24232128   Genotype and allele frequencies of drug-metabolizing enzymes and drug transporter genes affecting immunosuppressants in the Spanish white population.

  25365249   The NOD2 p.Leu1007fsX1008 (rs2066847) mutation is a stronger predictor of the clinical course of Crohn's disease than the FOXO3A intronic variant rs12212067.

  25587358   Complex host genetics influence the microbiome in inflammatory bowel disease.

  26107754   Association of SNPs with the efficacy and safety of immunosuppressant therapy after heart transplantation.

  26147989   The NOD2 single nucleotide polymorphism rs72796353 (IVS4 10 Au003eC) is a predictor of perianal fistulas in patients with Crohn's disease in the absence of other NOD2 mutations.

  26307985   Impact of Single Nucleotide Polymorphisms (SNPs) on Immunosuppressive Therapy in Lung Transplantation.

  26490195   Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study.

  26643661   Preliminary evaluation of exome sequencing to identify genetic markers of susceptibility to tuberculosis disease.

  26732016   Collecting Biospecimens From an Internet-Based Prospective Cohort Study of Inflammatory Bowel Disease (CCFA Partners): A Feasibility Study.

  26752461   NOD2 Loss-of-Function Mutations and Risks of Necrotizing Enterocolitis or Focal Intestinal Perforation in Very Low-birth-weight Infants.

  26827181   Single Nucleotide Polymorphisms in MORC4, CD14, and TLR4 Are Related to Outcome of Allogeneic Stem Cell Transplantation.

  26839472   Clinical and Genetic Features of Korean Patients with Recurrent Fever and Multi-System Inflammation without Infectious or Autoimmune Evidence.

  26986131   Human Cytokine Genetic Variants Associated With HBsAg Reverse Seroconversion in Rituximab-Treated Non-Hodgkin Lymphoma Patients.

  27152134   NOD2 mutations and colorectal cancer - Where do we stand?