SNP information rs2066847

Research and publications:

  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

  16859562   Do host genetic traits in the bacterial sensing system play a role in the development of Chlamydia trachomatis-associated tubal pathology in subfertile women?

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

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

  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.

  18587394   Genome-wide association identifies more than 30 different susceptibility loci for Crohn's disease.

  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

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

  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.

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

  20047977   Tumor necrosis factor (TNF) and lymphotoxin-alpha (LTA) polymorphisms and risk of non-Hodgkin lymphoma in the InterLymph Consortium

  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.

  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.

  20570966   Nonsecretory fucosyltransferase 2 (FUT2) status is associated with Crohn's disease.

  20805105   Synthetic associations in the context of genome-wide association scan signals

  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.

  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.

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

  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

  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.

  21636646   Association of TNFSF15 polymorphism with irritable bowel syndrome.

  21658613   Host genetics in follicular lymphoma.

  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.

  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.

  21858135   Efficient replication of over 180 genetic associations with self-reported medical data.

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

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

  22319155   Crohn's disease risk alleles at the NOD2 locus are maintained by natural selection on standing variation.

  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.

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

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

  22879519   The NOD2insC polymorphism is associated with worse outcome following ileal pouch-anal anastomosis for ulcerative colitis.

  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.

  23725363   Prediction of complex Crohn's disease and surgery: phenotypes, genetics, serology and psychological characteristics of a population-based cohort.

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

  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.

  24627602   ATG16L1 and NOD2 polymorphisms enhance phagocytosis in monocytes from patients with Crohn's disease.

  25117299   Cumulative effects of genetic markers and the detection of advanced colorectal neoplasias by population screening.

  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.

  25962811   Non-Hodgkin Lymphoma, Body Mass Index, and Cytokine Polymorphisms: A Pooled Analysis from the InterLymph Consortium.

  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.

  26238283   The role of NOD1/CARD4 and NOD2/CARD15 genetic variations in lung cancer risk.

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

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

  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.

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

  27156530   Genetic variation in IBD: progress, clues to pathogenesis and possible clinical utility.

  27303667   Genetic influences on the development of fibrosis in Crohn's disease.

  27306066   Genetic Association Analysis Reveals Differences in the Contribution of NOD2 Variants to the Clinical Phenotypes of Orofacial Granulomatosis.

  27404661   Polymorphisms in the mannose-binding lectin gene are associated with defective functional activity of mannose-binding lectin in patients with Crohn's disease.

  27670835   Systematic meta-analyses and field synopsis of genetic and epigenetic studies in paediatric inflammatory bowel disease.

  27802154   Interplay of host genetics and gut microbiota underlying the onset and clinical presentation of inflammatory bowel disease.

  27885704   Effects of genetic variations in the genes encoding NOD1 and NOD2 on type 2 diabetes mellitus and insulin resistance.

  28067910   Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7.

  28506689   Genetic Factors Interact With Tobacco Smoke to Modify Risk for Inflammatory Bowel Disease in Humans and Mice.

  28687809   Genetic variants of TRAF6 modulate peritoneal immunity and the risk of spontaneous bacterial peritonitis in cirrhosis: A combined prospective-retrospective study.

  28765628   NOD2 gene variants confer risk for secondary sclerosing cholangitis in critically ill patients.

  28827732   Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies.

  28891274   Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer.

  29228965   Genetic polymorphism in ATG16L1 gene is associated with adalimumab use in inflammatory bowel disease.

  29434451   Impaired bioactivity of granulocyte-macrophage colony-stimulating factor accelerates surgical relapse in Crohn's disease of the ileum.

  29446656   Crohn's disease candidate gene alleles predict time to progression from the B1 inflammatory phenotype to the stricturing B2 or penetrating B3 phenotype.

  29701818   Determinants of IBD Heritability: Genes, Bugs, and More.

  30061834   Impact of NOD2 variants on the outcome of treatment with Trichuris suis ova in Crohn's disease.

  30167848   Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease.

  31052430   Genetic Studies of Inflammatory Bowel Disease-Focusing on Asian Patients.

  31403980   Genetic Variations at rs3129891 and rs77005575 are Associated With Reduced Expression of Enteric α-defensins in IBD Patients.

  31818908   Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.

  32476786   Analysis of the genetic association of single nucleotide polymorphisms of the CLEC5A and CLEC7A genes and Crohn's disease.

  32476890   NOD2/CARD15 gene polymorphisms and sarcoidosis susceptibility: review and meta-analysis.

  32578848   Genetic variation in NOD1/CARD4 and NOD2/CARD15 immune sensors and risk of osteoporosis.

  32596371   The Impact of the NOD2/CARD15 Variant (3020insC) and PSMA6 Polymorphism (-8C>G) on the Development and Outcome of Multiple Myeloma.

  32716958   Development of a single, very aggressive disease phenotype in all homozygous carriers of the NOD2 p.Leu1007fsX1008 mutation with Crohn's disease and active smoking, leading to ileal stenosis requiring surgical intervention.

  33059653   Associations of NOD2 polymorphisms with Erysipelotrichaceae in the stool of healthy first-degree relatives of patients with Crohn's disease.

  34159422   Host genetic control of gut microbiome composition.

  34198814   Polymorphisms of the NOD2, IL23R, PTPN2 and ATG16L1 genes in patients with Crohn's disease: towards personalized medicine?

  34464323   Are Pattern Recognition Receptors Associated with Hepatocellular Carcinoma?

  34834553   Innate-Immunity Genes in Obesity.

  35548966   GENE VARIANTS NOD2c.3019-3020insC AND c.2104Cu003eT AMONG PATIENTS FROM WESTERN UKRAINE WITH CROHN'S DISEASE AND COLORECTAL CANCER.