ISSN 2756-3332
African Journal of Nursing and Midwifery ISSN 2198-4638 Vol. 7 (5), pp. 001-004, May, 2019. © International Scholars Journals
Full Length Research paper
Evaluation of the association of NOD2/CARD15 gene polymorphisms with clinical course of Turkish Crohn’s disease patients
Fatih Tekin1*, Afig Berdeli2, Omer Ozutemiz1, Ahmet Aydin1, Ahmet Musoglu1, Necla Osmanoglu1 and Tankut Ilter1
1Ege University Medical School, Department of Gastroenterology, Izmir, Turkey.
2Ege University Medical School, Department of Pediatrics, Division of Genetics, Izmir, Turkey.
Accepted 17 March, 2019
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.