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

R Marrakchi, K Bougatef, A Moussa, S Ouerhani, H Khodjet-el-Khil, Y Messai, O Mestiri, T Najar, A Benammar-Elgaaeid
Inflammation Research: Official Journal of the European Histamine Research Society ... [et Al.] 2009, 58 (4): 218-23

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 northern 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.

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