بررسی نقش جهش‌های شایع ژن NOD2 در بیماری کرون

Abstract Background: NOD2 gene located on chromosome 16 (IBD1) is known to have a strong association with Crohn’s disease. Three common polymorphisms of this gene including R702W, G908R, 1007fsinsC, were reported to be frequent in many western populations while rare occurrence of them was observed in eastern countries. The aim of this study was to assess the frequency of these polymorphisms in Iranian patients with Crohn's disease and compare it to healthy controls. Methods: A total of 100 non-related Crohn's patients and 100 sex and age matched healthy controls from Iranian origin were enrolled in this study. The participants were referred to a tertiary center during a two-year period (2009-2010). Three polymorphisms of NOD2 gene were amplified by polymerase chain reaction and evaluated by direct sequencing. Phenotype-genotype analysis was performed. Results: The frequencies of three main variants of NOD2 gene (R702W, G908R, and 1007fs) were represented in 13%, 2.5% and 2% of patients with Crohn's Disease and 1.5%, 1.5% and 1% of healthy controls, respectively. Only R702W variation demonstrated a higher frequency in Iranian CD patients compared to controls (p<0.001). No phenotype-genotype association was observed for NOD2 mutations. Conclusion: Among the three principle variants of CARD15 gene, only R702W demonstrated a higher frequency in Iranian CD patients,but the frequencies of these mutations were different in comparison to other populations. It is presumed that mutations different from those seen in the western population, could have a role in susceptibility to CD in Iran. Keywords: NOD2, Crohn’s, mutation, sequencing.