Background It has been shown that CARD15/NOD2 molecule has an important role in etiopathogenesis of many inflammatory diseases and provides susceptibility to diseases. CARD15/NOD2 is a cytoplasmic molecule, which recognizes some microbial components, has roles in control of apoptosis and inflammatory processes. Its relationship with spondyloarthritis and inflammatory bowel diseases are well-known.
Objectives The aim of our study was to investigate CARD15/NOD2 gene mutations in Turkish patients with ankylosing spondylitis (AS), and to define possible relationships with disease susceptibility, disease severity and findings.
Methods According to modified New York criteria, 100 patients with diagnosis of AS and 50 healthy controls were enrolled into the study. After informed consents were obtained from all patients and controls, CARD15/NOD2 (G908R, R702W, C3020ins variants) gene mutation was analyzed by PCR method.
Results While a total of 9 (9%) heterozygote mutations were defined in CARD15 G908R and CARD15 R702W variants, no mutation was detected in CARD15 C3020ins. Compared to control group, there was no statistically significant difference in all 3 regions (G908R, R702W, 3020insC) (p=0.571; p=0.683 and p=0.150; respectively). In patient group there was no possible statistically significant correlation in clinical findings (uveitis, sacroiliitis, knee and hip involvements, disease activation etc.) between patients with and without mutations in all 3 regions (p>0.05).
Conclusions Our results indicated that frequently encountered CARD15 variants did not have important roles in Turkish patients with AS.
Hugot JP, Laurent-Puig P, Gower-Rousseau C, Olson JM, Lee JC, Beaugerie L. et al. Mapping of a susceptibility locus for Crohn’s disease on chromosome 16. Nature 1996; 379: 821–3.
Lesage S, Zouali H, Cezard JP, Colombel JF, Belaiche J, Almer S et al. CARD15/NOD2 mutational analysis and genotype–phenotype correlation in 612 patients with inflammatory bowel disease. Am J Hum Genet 2002;70:845–57.
Kim TH, Rahman P, Jun JB, Lee HS, Park YW, Im HJ et al. Analysis of CARD15 polymorphisms in Korean patients with ankylosing spondylitis reveals absence of common variants seen in western populations. J Rheumatol. 2004 Oct;31(10):1959-61.
van der Paardt M, Crusius JB, de Koning MH, Murillo LS, Van de Stadt RJ, Dijkmans BA et al.CARD15 gene mutations are not associated with ankylosing spondylitis. Genes Immun 2003;4:77–8.
Laukens D, Peeters H, Marichal D, Vander Cruyssen B, Mielants H. CARD15 gene polymorphisms in patients with spondyloarthropathies identify a specific phenotype previously related to Crohn’s disease. Ann Rheum Dis 2005;64:930–935.
Disclosure of Interest None Declared