title: 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.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Laboratoire de Génétique, Immunologie et Pathologies Humaines, Faculté des Sciences de Tunis, Campus Universitaire 2092, Tunis, Tunisie. raja.triki@laposte.net
authors.forename: R
authors.initials: R
authors.lastname: Marrakchi
authors.forename: K
authors.initials: K
authors.lastname: Bougatef
authors.forename: A
authors.initials: A
authors.lastname: Moussa
authors.forename: S
authors.initials: S
authors.lastname: Ouerhani
authors.forename: H
authors.initials: H
authors.lastname: Khodjet-el-Khil
authors.forename: Y
authors.initials: Y
authors.lastname: Messai
authors.forename: O
authors.initials: O
authors.lastname: Mestiri
authors.forename: T
authors.initials: T
authors.lastname: Najar
authors.forename: A
authors.initials: A
authors.lastname: Benammar-Elgaaeid
mesh_terms: D000328:Adult; D000908:Antibodies, Fungal / Q000235:genetics / Q000276:immunology; D003424:Crohn Disease / Q000276:immunology / Q000473:pathology; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007082:Ileum / Q000473:pathology*; D016254:Mutagenesis, Insertional; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype; D012441:Saccharomyces cerevisiae / Q000276:immunology*; D014416:Tunisia
chemical_list: D000908:Antibodies, Fungal; D053473:Nod2 Signaling Adaptor Protein