title: 1007fs, G908R, R702W mutations and P268S, IVS8+158 polymorphisms of the CARD15 gene in Turkish inflammatory bowel disease patients and their relationship with disease-related surgery.
abstract: BACKGROUND
  CARD15 gene mutations may present different frequencies in populations and sometimes surgical interventions may become a necessary therapy for inflammatory bowel disease patients. Mutations of 1007fs, G908R, R702W and polymorphisms of P268S, IVS8+158 of the CARD15 gene and their relation with disease-related surgery were investigated in Turkish inflammatory bowel disease patients in this study.
  
  
  METHODS
  1007fs, G908R, R702W mutations and P268S, IVS8+158 polymorphisms of CARD15 gene were analyzed in 130 inflammatory bowel disease patients (67 Crohn's disease, 63 ulcerative colitis) and 87 healthy controls. After obtaining DNA samples, genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Results were evaluated by statistical analysis and accepted as significant if P < 0.05.
  
  
  RESULTS
  R702W gene mutation was significantly lower in the inflammatory bowel disease group (1.5%) than the controls (4.8%) (P < 0.05). The overall allele frequency of mutations in the inflammatory bowel disease group (2.7%) was lower than in controls (6.6%) (P < 0.05). Disease-related surgery history was present in 20 Crohn's and 25 ulcerative colitis patients; familial history was present in four Crohn's and five ulcerative colitis patients. Statistically, no relationship was detected between disease-related surgeries and the investigated genetic tests.
  
  
  CONCLUSIONS
  In Turkish patients, no important relationship was detected between the investigated allele frequencies of the CARD15 gene and inflammatory bowel disease nor between disease-related surgeries and inflammatory bowel disease.
authors.affiliation: Gastroenterohepatology Clinic, Haydarpasa Numune Education and Research Hospital, Istanbul, Turkey. alince@superonline.com
authors.forename: Ali Tüzün
authors.initials: AT
authors.lastname: Ince
authors.forename: Ozden
authors.initials: O
authors.lastname: Hatirnaz
authors.forename: Oya
authors.initials: O
authors.lastname: Ovünç
authors.forename: Uğur
authors.initials: U
authors.lastname: Ozbek
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D005260:Female; D005838:Genotype; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000453:epidemiology / Q000235:genetics* / Q000601:surgery; D008297:Male; D008875:Middle Aged; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic; D014421:Turkey / Q000453:epidemiology
chemical_list: C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein