rs2066847 is one of several SNPs referring to a one base insertion into a run of C's within exon 11 of the NOD2 gene; the other SNPs are rs5743293 and rs112436597.

The two initial reports linking this insertion variant with Crohn's disease are [PMID 11385576] and [PMID 11385577]. In OMIM, this insertion is allelic variant #605956.0001

[PMID 20940596] NOD2/CARD15 Mutations Correlate With Severe Pouchitis After Ileal Pouch-Anal Anastomosis

[PMID 20959815] NOD2 Gene Polymorphism rs2066844 Associates With Need for Combined Liver-Intestine Transplantation in Children With Short-Gut Syndrome

[PMID 21734346] High-resolution melting curve analysis for high-throughput genotyping of NOD2/CARD15 mutations and distribution of these mutations in Slovenian inflammatory bowel diseases patients

[PMID 22649567] Patients with Inflammatory Bowel Disease Exhibit Dysregulated Responses to Microbial DNA

[PMID 22719818] Inflammatory Bowel Diseases Phenotype, C. difficile and NOD2 Genotype Are Associated with Shifts in Human Ileum Associated Microbial Composition

[PMID 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.

[PMID 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?

[PMID 17327408] Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival.

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

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

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

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

[PMID 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.

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

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

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

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

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

[PMID 20066736] Interaction of the major inflammatory bowel disease susceptibility alleles in Crohn's disease patients.

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

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

[PMID 21730793] Influence of Crohn's disease risk alleles and smoking on disease location.

[PMID 23651603] P268S in NOD2 associates with susceptibility to Parkinson's disease in Chinese population

[PMID 21745302] NOD2 gene variants are a risk factor for culture-positive spontaneous bacterial peritonitis and monomicrobial bacterascites in cirrhosis.

[PMID 23725363] Predicting complicated Crohn's disease and surgery: phenotypes, genetics, serology and psychological characteristics of a population-based cohort.


Parent Gene: NOD2

Importance: 3
Less common allele: C = 1%
More common allele: None = None
My Genotype: Log In
Risk Allele: T, C

Disease/Trait: Crohn's Disease

rs2066847 is associated with Crohn's Disease (R). It is reported to increased association with Crohn's disease. No specific risk allele was identified in the study.

Disease/Trait: Crohn's Disease

The C allele of rs2066847 is reported to be associated with Crohn's Disease (R). Your genotype was not identified for this SNP so we are unable to comment on your association with Crohn's disease.