title: NOD2/CARD15 mutations and the risk of reoperation in patients with Crohns disease.
abstract: BACKGROUND
  Three NOD2/CARD15 gene variants (3020insC, R702W, G908R) have been identified as genetic risk factors for Crohns disease patients. However the diagnostic and therapeutic relevance for clinical practice remains limited. The aim of this study was to evaluate the association between these variants, the risk of reoperation and disease phenotype.
  
  
  METHODS
  In 76 Crohns disease patients (41 female, 35 male) with a minimum 5 year follow-up, three polymorphisms of the NOD2/CARD15 gene (R702W, G908R, 3020insC) were tested. Detailed clinical and medical history including surgical procedures and reoperations were obtained by reviewing the medical charts and completed prospectively. Association between the need for reoperation, disease phenotypes and gene variants were analyzed.
  
  
  RESULTS
  24 patients (32%) showed at least one NOD2/CARD15 mutation. 25 patients (33%) required reoperation, 51 (67%) represented the control group. The expected trend that patients with NOD2/CARD15 variants have a higher frequency of reoperations was not confirmed to a level of statistical significance (p=0.2688). Two of the four patients (50%) with the 3020insC variant required further surgery. We did not confirm any association between NOD2/CARD15 mutations and age at diagnosis (p=0.4356), behavior (p=0.6610), or localization (p=0.4747) according to the Montreal classification.
  
  
  CONCLUSIONS
  NOD2/CARD15 polymorphisms did not significantly affect the reoperation rate. Homozygosity for the 3020insC variant in the NOD2/CARD15 gene is associated with a high risk of reoperation. NOD2/CARD15 gene variants are not significantly associated with specific disease phenotypes.
authors.forename: L
authors.initials: L
authors.lastname: Martínek
authors.forename: T
authors.initials: T
authors.lastname: Kupka
authors.forename: J
authors.initials: J
authors.lastname: Simova
authors.forename: P
authors.initials: P
authors.lastname: Klvaňa
authors.forename: M
authors.initials: M
authors.lastname: Bojková
authors.forename: M
authors.initials: M
authors.lastname: Uvírová
authors.forename: P
authors.initials: P
authors.lastname: Dítě
authors.forename: J
authors.initials: J
authors.lastname: Dvorackova
authors.forename: J
authors.initials: J
authors.lastname: Hoch
authors.forename: P
authors.initials: P
authors.lastname: Zonca
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D003424:Crohn Disease / Q000235:genetics* / Q000601:surgery; D013505:Digestive System Surgical Procedures; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D010641:Phenotype; D011379:Prognosis; D012086:Reoperation; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein