ArticlePloS one2015
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.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 3 of them syntheses that pooled it.
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Who cites it
15 citing papers in PubMed, 3 syntheses or guidelines pooled it, 31 citations in OpenAlex.
- Biomarkers in the pathogenesis and diagnosis of Crohn's perianal fistulas: a systematic review.Techniques in coloproctology · 2026Pooled it
- Pooled it
- Prognostic factors affecting outcomes in fistulating perianal Crohn's disease: a systematic review.Techniques in coloproctology · 2017Pooled it
- Concurrent Management of Prostate Cancer and Perianal Fistula: A Case Report, Treatment Considerations, and Review of Literature.Case reports in urology · 2026Article
- Influence of Familial Inflammatory Bowel Disease History on the Use of Immunosuppressants, Biological Agents and Surgery in Patients with Pediatric-Onset of the Disease in the Era of Biological Therapies. Results from the ENEIDA Registry.Journal of clinical medicine · 2025Article
- Perianal Fistulizing Crohn's Disease: Outcomes of Surgical Repairs and Current State of Stem Cell-Based Therapies.Clinics in colon and rectal surgery · 2025Review
- Where Are We and Where to Next?-The Future of Perianal Crohn's Disease Management.Journal of clinical medicine · 2023Review
- Clinical and magnetic resonance imaging spectrum of complex perianal fistulizing Crohn's disease: A cohort study from northern India.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2023Article
- The Intersection of Human and Veterinary Medicine-A Possible Direction towards the Improvement of Cell Therapy Protocols in the Treatment of Perianal Fistulas.International journal of molecular sciences · 2022Review
- Treatment Strategy for Perianal Fistulas in Crohn Disease Patients: The Surgeon's Point of View.Annals of coloproctology · 2021Review
- Dysbiosis in a canine model of human fistulizing Crohn's disease.Gut microbes · 2020Article
- Genetic association analysis ofWorld journal of gastroenterology · 2020Observational
- Polymorphisms of the TNF Gene and Three Susceptibility Loci Are Associated with Crohn's Disease and Perianal Fistula Crohn's Disease: A Study among the Han Population from South China.Medical science monitor : international medical journal of experimental and clinical research · 2019Article
- Intestinal APCs of the endogenous nanomineral pathway fail to express PD-L1 in Crohn's disease.Scientific reports · 2016Article
- Results of the Fifth Scientific Workshop of the ECCO (II): Pathophysiology of Perianal Fistulizing Disease.Journal of Crohn's & colitis · 2016Article
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundA previous study suggested an association of the single nucleotide polymorphism (SNP) rs72796353 (IVS4+10 A>C) in the NOD2 gene with susceptibility to Crohn's disease (CD). However, this finding has not been confirmed. Given that NOD2 variants still represent the most important predictors for CD susceptibility and phenotype, we evaluated the association of rs72796353 with inflammatory bowel disease (IBD) susceptibility and the IBD phenotype. METHODOLOGY: Genomic DNA from 2256 Caucasians, including 1073 CD patients, 464 patients with ulcerative colitis (UC), and 719 healthy controls, was genotyped for the NOD2 SNP rs72796353 and the three main CD-associated NOD2 mutations rs2066844, rs2066845, and rs2066847. Subsequently, IBD association and genotype-phenotype analyses were conducted.
resultsIn contrast to the strong associations of the NOD2 SNPs rs2066844 (p=3.51 x 10(-3)), rs2066845 (p=1.54 x 10(-2)), and rs2066847 (p=1.61 x 10(-20)) with CD susceptibility, no significant association of rs72796353 with CD or UC susceptibility was found. However, in CD patients without the three main CD-associated NOD2 mutations, rs72796353 was significantly associated with the development of perianal fistulas (p=2.78 x 10(-7), OR 5.27, [95% CI 2.75-10.12] vs. NOD2 wild-type carriers). CONCLUSION/SIGNIFICANCE: Currently, this study represents the largest genotype-phenotype analysis of the impact of the NOD2 variant rs72796353 on the disease phenotype in IBD. Our data demonstrate that in CD patients the IVS4+10 A>C variant is strongly associated with the development of perianal fistulas. This association is particularly pronounced in patients who are not carriers of the three main CD-associated NOD2 mutations, suggesting rs72796353 as additional genetic marker for the CD disease behaviour.
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