rs2066847

 

Chromosome 16
Position  50763777
Gene NOD2

AG

47.847.8%

GG

29.729.7%

AA (Risk allele)

22.522.5%

Breakdown:

rs2066847 is one of a number SNPs referring to a one base insertion into a series  of C alleles within exon 11 of the NOD2 gene.

II  is associated with:

  • Crohn’s disease  (Ref), (Ref), (Ref)
  • Insertion was associated with increased intestinal permeability (AKA Leaky gut) in 75% of multiplex and 61% of the sporadic Crohn’s disease patients (115 patients, 127 first-degree relatives including some with sporadic disease, 19 healthy controls) (Ref).

 

Research studies
  1. Genetic Variations at rs3129891 and rs77005575 are Associated With Reduced Expression of Enteric alpha-defensins in IBD Patients.
  2. Crohn’s Disease Candidate Gene Alleles Predict Time to Progression from Inflammatory B1 to Stricturing B2, or Penetrating B3 Phenotype.
  3. Impaired granulocyte-macrophage colony-stimulating factor bioactivity accelerates surgical recurrence in ileal Crohn’s disease.
  4. Genetic polymorphism in ATG16L1 gene is associated with adalimumab use in inflammatory bowel disease.
  5. Associations between NOD2, IRGM and ORMDL3 polymorphisms and pediatric-onset inflammatory bowel disease in the Lithuanian population.
  6. Effects of genetic variations in the genes encoding NOD1 and NOD2 on type 2 diabetes mellitus and insulin resistance.
  7. Systematic meta-analyses and field synopsis of genetic and epigenetic studies in paediatric inflammatory bowel disease.
  8. Single Nucleotide Polymorphisms in MORC4, CD14, and TLR4 Are Related to Outcome of Allogeneic Stem Cell Transplantation.
  9. The role of NOD1/CARD4 and NOD2/CARD15 genetic variations in lung cancer risk.
  10. The NOD2 Single Nucleotide Polymorphism rs72796353 (IVS4+10 A>C) Is a Predictor for Perianal Fistulas in Patients with Crohn’s Disease in the Absence of Other NOD2 Mutations.
  11. Non-Hodgkin Lymphoma, Body Mass Index, and Cytokine Polymorphisms: A Pooled Analysis from the InterLymph Consortium.
  12. The NOD2 p.Leu1007fsX1008 mutation (rs2066847) is a stronger predictor of the clinical course of Crohn’s disease than the FOXO3A intron variant rs12212067.
  13. Cumulative effects of genetic markers and the detection of advanced colorectal neoplasias by population screening.
  14. Autophagy genes variants and paediatric Crohn’s disease phenotype: a single-centre experience.
  15. NOD2 polymorphisms associated with cancer risk: a meta-analysis.
  16. Predicting complicated Crohn’s disease and surgery: phenotypes, genetics, serology and psychological characteristics of a population-based cohort.
  17. P268S in NOD2 associates with susceptibility to Parkinson’s disease in Chinese population.
  18. Genotype/phenotype analyses for 53 Crohn’s disease associated genetic polymorphisms.
  19. The NOD2insC polymorphism is associated with worse outcome following ileal pouch-anal anastomosis for ulcerative colitis.
  20. High-resolution melting curve analysis for high-throughput genotyping of NOD2/CARD15 mutations and distribution of these mutations in Slovenian inflammatory bowel diseases patients.
  21. Influence of Crohn’s disease risk alleles and smoking on disease location.
  22. The NOD2 single nucleotide polymorphisms rs2066843 and rs2076756 are novel and common Crohn’s disease susceptibility gene variants.
  23. NOD2 gene polymorphism rs2066844 associates with need for combined liver-intestine transplantation in children with short-gut syndrome.
  24. NOD2/CARD15 mutations correlate with severe pouchitis after ileal pouch-anal anastomosis.
  25. Hirschsprung-associated enterocolitis develops independently of NOD2 variants.
  26. NOD2, IL23R and ATG16L1 polymorphisms in Lithuanian patients with inflammatory bowel disease.
  27. Interaction of the major inflammatory bowel disease susceptibility alleles in Crohn’s disease patients.
  28. Tumor necrosis factor (TNF) and lymphotoxin-alpha (LTA) polymorphisms and risk of non-Hodgkin lymphoma in the InterLymph Consortium.
  29. Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy.

 

EXPRESSION CONTROL

Increase activity ↑

 

 

Decrease activity ↓

 

 

Can work both ways ↑↓

 

 

DISCUSSION & TIPS

The NOD2 gene encodes a protein that plays an important role in immune system function. It helps protect the body against foreign invaders by helping control immune responses and inflammatory reactions. It is also involved in autophagy and programmed cell death (Ref).