Abstract

NOD2/CARD15 gene variants may be associated with distinct phenotypic expressions of Crohn’s disease, however, this association may change according to the ethnic and regional variation. The aim of this study was to analyze the impact of NOD2/CARD15 gene mutations on disease phenotype in Turkish Crohn’s disease patients. Fourty-five Crohn’s disease patients (32 males, 13 females) with a mean age of 38,7 ± 12,1 (range: 19-78) were enrolled into this prospective study. The three major polymorphisms (R702W, G908R, 3020insC) on NOD2/CARD15 gene were studied from the peripheral blood genomic DNA. R702W and G908R mutations were studied by PCR-RFLP method, and 3020insC mutation was studied by DNA sequencing. No homozygous mutation was detected. Heterozygous R702W, G908R, and 3020insC mutations were detected in 4, 3, and 4 patients, respectively.  The frequency of R702W, G908R, and 3020insC mutations was found to be 4.4, 3.3, and 4.4%, respectively. The overall mutation frequency was found to be 12.2%. There was no statistically difference between the clinical course of the patients with (n = 11) and without (n = 34) mutations (p>0.05). NOD2/CARD15 gene polymorphisms do not have impact on disease phenotype in Turkish Crohn’s disease patients.

Key words: NOD2/CARD15 gene, Crohn’s disease, phenotype.