title: CARD15/NOD2 in a Tunisian population with Crohn's disease.
abstract: Crohn's disease (CD) is a heterogeneous disorder. A genetic linkage to chromosome 16 (IBD1) has been previously observed and replicated in unrelated populations. Recently, in this region, NOD2/CARD15 has been identified as a susceptibility gene. The aim of this report is to determine whether this gene is implicated in CD in a Tunisian population. One hundred thirty patients with CD and 90 healthy individuals were genotyped for the three common NOD2 variants (C2104T in exon 4, G2722C in exon 8, and 3020insC in exon 11). Furthermore, the 11 exons of the NOD2 gene were sequenced in 20 patients with CD. Results showed that the frequency of the CARD15 variants in the Tunisian population is significantly lower than that observed in the European and American population. Direct sequencing of CARD15 did not permit us to identify a characteristic mutation in our population. No association was confirmed between CD and the NOD2 gene in our Tunisian population. Furthermore, the NOD2/CARD15 gene has a variable association with CD in different populations. These results indicate the genetic variation of CD in different ethnic groups.
authors.affiliation: Service de Gastro-entérologie A, Hôpital La Rabta, Tunis, Tunisie. w.mekki@laposte.net
authors.forename: Lilia
authors.initials: L
authors.lastname: Zouiten-Mekki
authors.forename: Habib
authors.initials: H
authors.lastname: Zaouali
authors.forename: Jalel
authors.initials: J
authors.lastname: Boubaker
authors.forename: Sami
authors.initials: S
authors.lastname: Karoui
authors.forename: Monia
authors.initials: M
authors.lastname: Fekih
authors.forename: Samira
authors.initials: S
authors.lastname: Matri
authors.forename: Sami
authors.initials: S
authors.lastname: Hamzaoui
authors.forename: Azza
authors.initials: A
authors.lastname: Filali
authors.forename: Habiba
authors.initials: H
authors.lastname: Chaabouni
authors.forename: Jean Pierre
authors.initials: JP
authors.lastname: Hugot
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001120:Arginine; D016022:Case-Control Studies; D003424:Crohn Disease / Q000235:genetics*; D005091:Exons; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D005998:Glycine; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D053473:Nod2 Signaling Adaptor Protein; D014364:Tryptophan; D014416:Tunisia
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein; D014364:Tryptophan; D001120:Arginine; D005998:Glycine