3020insC insertion in NOD2/CARD15 gene, a prevalent variant associated with anti-Saccharomyces cerevisiae antibodies and ileal location of Crohn’s disease in Tunisian population

. Objective: Our aim is to investigate the relation between CARD15 3020insC mutation, anti- Saccharomyces cerevisiae antibodies (ASCA) and disease phenotype, in Tunisian inflammatory bowel disease (IBD) patients. Materials: A hundred Tunisian patients with IBD (75 Crohn’s disease CD and 25 ulcerative colitis UC) and 60 matched healthy controls were studied. Methods: CARD15 mutation was analysed by using an allele-specific polymerase chain reaction and sequencing. Assessment of ASCA in serum was performed by ELISA. Results: The frequency of the mutation was significantly higher in Crohn’s disease than in control ( p = 0,0005; OR = 20.45; CI 95% = 2.86–413.85) and did not differ statistically in UC group ( p = 0, 05) from control. ASCAs were present in 60% of CD and 20, 8% of UC Conclusion: This study suggests that in northen Tunisian population, 3020insC mutation in NOD2/CARD15 gene is a prevalent mutation leading to the typical Crohn’s disease including ileal location, stricturing and penetrating clinical types and ASCA expression.