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

Ince A. T., Hatirnaz O., OVUNC O., Ozbek U.

DIGESTIVE DISEASES AND SCIENCES, vol.53, no.6, pp.1683-1692, 2008 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 53 Issue: 6
  • Publication Date: 2008
  • Doi Number: 10.1007/s10620-007-0054-4
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1683-1692
  • Keywords: inflammatory bowel diseases, Crohn's disease, ulcerative colitis, CARD15, gene mutations, disease-related surgery, GENOTYPE-PHENOTYPE CORRELATION, CROHNS-DISEASE, NOD2/CARD15 GENE, JAPANESE PATIENTS, SUSCEPTIBILITY, POPULATION, ASHKENAZI, VARIANTS, RISK, CLASSIFICATION
  • Bezmialem Vakıf University Affiliated: No


Introduction 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. Material and Method 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. Conclusion 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.