International Journal of Medicine and Medical Sciences Vol 1(5) pp. 211-214, May, 2009 Available online http://www.academicjournals.org/ijmms 2009 Academic Journals Full Length Research paper Evaluation of the association of NOD2/CARD15 gene polymorphisms with clinical course of Turkish Crohn’s disease patients Fatih Tekin 1 *, Afig Berdeli 2 , Omer Ozutemiz 1 , Ahmet Aydin 1 , Ahmet Musoglu 1 , Necla Osmanoglu 1 and Tankut Ilter 1 1 Ege University Medical School, Department of Gastroenterology, Izmir, Turkey. 2 Ege University Medical School, Department of Pediatrics, Division of Genetics, Izmir, Turkey. Accepted 17 April, 2009 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. INTRODUCTION NOD2/CARD15 mutations are associated with suscepti- bility to Crohn’s disease (CD) but not ulcerative colitis (Hampe et al., 2001; Hugot et al., 2001). Three major mu- tations (R702W, G908R, and 1007fs) were confirmed to be independently associated with susceptibility to CD (Lesage et al., 2002). However, this impact changes ac- cording to the ethnic and even regional variation. Fre- quencies of the NOD2/CARD15 gene mutations have been reported up to 50% of central Europeans with CD (Lesage et al., 2002), however, a considerable regional variation occurs even in Europe (Heliö et al., 2003; Ham- pe et al., 2002; Bairead et al., 2003; Arnott et al., 2004). On the other hand, no association between the NOD2/CARD15 gene variants and CD have been report- *Corresponding author. E-mail: drtekinfatih@yahoo.com. Tel.: +90-232-3903476. Fax: +90-232-3427764. ed from Asian countries (Inoue et al., 2002; Leong et al., 2003). To our knowledge, three studies with Turkish CD patients (Ozen et al., 2006; Uyar et al., 2006; Ince et al., 2008) and one study with Turkish Behcet’s disease pa- tients (Uyar et al., 2004) have been previously performed to investigate the polymorphisms in the NOD2/CARD15 gene. However, it seems likely that lack of data exists about the association of NOD2/CARD15 genotype with clinical course of Turkish CD patients. The aim of this stu- dy was to define the impact of the NOD2/CARD15 gene mutations on Turkish CD patients phenotype. MATERIALS AND METHODS Patients Fourty five sporadic CD patients were enrolled into the study. The diagnosis of CD, disease behaviour and locations were established on clinical, radiological, endoscopical and histopathological find- ings. Written, signed consent was obtained from all participants.