Inflammation Research

, Volume 58, Issue 4, pp 218–223

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

Authors

    • Laboratoire de GénétiqueImmunologie et Pathologies Humaines, Faculté des Sciences de Tunis
  • K. Bougatef
    • Laboratoire de GénétiqueImmunologie et Pathologies Humaines, Faculté des Sciences de Tunis
  • A. Moussa
    • Service gastroentérologieHôpital Charles Nicolle de Tunis
  • S. Ouerhani
    • Laboratoire de GénétiqueImmunologie et Pathologies Humaines, Faculté des Sciences de Tunis
  • H. Khodjet-el-Khil
    • Laboratoire de GénétiqueImmunologie et Pathologies Humaines, Faculté des Sciences de Tunis
  • Y. Messai
    • Laboratoire de GénétiqueImmunologie et Pathologies Humaines, Faculté des Sciences de Tunis
  • O. Mestiri
    • Laboratoire de GénétiqueImmunologie et Pathologies Humaines, Faculté des Sciences de Tunis
  • T. Najar
    • Service gastroentérologieHôpital Charles Nicolle de Tunis
  • A. Benammar-Elgaaeid
    • Laboratoire de GénétiqueImmunologie et Pathologies Humaines, Faculté des Sciences de Tunis
Article

DOI: 10.1007/s00011-008-8139-x

Cite this article as:
Marrakchi, R., Bougatef, K., Moussa, A. et al. Inflamm. Res. (2009) 58: 218. doi:10.1007/s00011-008-8139-x

Abstract.

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.

Keywords:

Crohn’s diseaseCARD15/NOD2ASCAInflammatory bowel disease3020insC mutation
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Copyright information

© Birkhäuser Verlag, Basel 2009