ABSTRACT
Background and Aims: CARD15/NOD2 is recognized as a major susceptibility gene for Crohn’s disease. Several mutations of CARD15/NOD2 have been reported in different racial groups. We aimed to investigate the frequency of three common CARD15/NOD2 mutations in a Jordanian Crohn’s disease cohort. Methodology: Fifty one unrelated Crohn’s disease patients and fifty one age- and sex-matched healthy controls were recruited at two hospitals in Jordan. Demographic and phenotypic characteristics of patients were ascertained. Allele frequencies for three CARD15/NOD2 mutations (G2722C, C2104T, 3020insC) were determined by PCR-RFLP, ARM-PCR, and direct sequencing using allele specific primers. Results: The frequencies of G2722C alleles in Crohn’s disease patients were higher but not statistically significant as compared to healthy controls (5.9% vs. 1.9%; P = 0.32). On the other hand, C2104T and 3020insC mutations have not been detected in Crohn’s disease patients or healthy controls. Conclusion: Our findings indicate that common mutations of CARD15/NOD2 gene in White patients with Crohn’s disease are not associated with Crohn’s disease in the Jordanian population. Further studies are needed to ascertain the effect of these and other mutations on Crohn’s disease susceptibility and behavior in our population.