Association of NFKB 1 and NFKBIA Polymorphisms in Relation to Susceptibility of B ehçet's Disease

• Published in: Scandinavian journal of immunology 2015-01, Vol.81 (1), p.81-86
• Main Authors: Yenmis, G., Oner, T., Cam, C., Koc, A., Kucuk, O. S., Yakicier, M. C., Dizman, D., Kanigur Sultuybek, G.
• Format: Article
• Language: English
• ISSN: 0300-9475; 1365-3083
• DOI: 10.1111/sji.12251

Behçet's disease ( BD ) is a chronic inflammatory autoimmune disease. Although raised levels of proinflammatory cytokines in BD have been reported, the pathogenesis is still unknown. The aim of this study was to investigate the association of NFKB 1 and NFKBIA polymorphisms and their single and combined analysis effects on susceptibility of BD in T urkish population. We analysed the distribution of NFKB 1 ‐94 ins/del ATTG (rs28362491) and NFKBIA 3′ UTR A→G (rs696) polymorphisms using PCR ‐ RFLP method in 89 patients with BD and 190 controls in this population. Statistical analysis of the results was performed by calculating OR , and 95% CI via χ 2 test and using B onferroni correction. According to the significant results of both single and combined genotype analysis, the frequencies of ins/ins genotype and ins allele of rs28362491 were significantly higher in patients with BD ( P c = 0.003, 0.004, respectively). Also, higher frequencies of the rs696 variant containing AA genotype was found in patients with BD ( P c = 0.0033), whereas no statistical significant differences in distribution of the alleles of rs696 polymorphism in patients and controls. In addition, according to the combined genotype analysis, the wild type of both rs28362491 and rs696 polymorphisms (ins/ins/ AA genotype) was also significantly higher in BD cases ( P c = 0.044). Our findings prove that both single and combined genotype analysis of rs28362491 and rs696 polymorphisms indicate that the wild genotypes of both two SNP s (ins/ins and AA genotypes) and ins/ins/ AA combined genotype are strongly associated with enhanced risk of BD in a T urkish population.