Polymorphisms of TNF-alpha Gene and TNF Receptor Gene in Behcet's Disease / 대한류마티스학회지

ABSTRACT

Objective: TNF-alpha has a pivotal role in the development of inflammation on mucous lesion in Behcet's disease like Crohn's disease. We examined three single nucleotide polymorphisms (SNPs) of TNF receptor gene of intestinal Behcet's disease and Behcet's disease without gastrointestinal involvement. Methods: DNA of peripheral blood samples was obtained from 43 patients with intestinal Behcet's disease, 59 patients with Behcet's disease without gastrointestinal involvement and 60 healthy controls. After polymerase chain reaction (PCR), we examined SNPs of TNF-alpha gene (-308, -238) and TNF receptor gene (-1493, -196, -1466) by SNaPshot assay. We also analyzed reconstruction of haplotypes of three TNF receptor genes. Results: No significant difference was observed in the distribution of TNF-alpha gene (-308, -238) and TNF receptor gene (-1493, -196, -1466) polymorphisms among the groups. Haplotype reconstruction analysis of three TNF receptor genes showed difference in allele group of (T-T-G)(-1493/-196/-1493) between patients with intestinal Behcet's disease and Behcet's disease without gastrointestinal involvement (p<0.05). However, other allele groups revealed no difference among the groups. Conclusion: The role of TNF-alpha gene (-308, -238) polymorphisms and TNF receptor gene (-1493, -196, -1466) polymorphisms in the pathogenesis of Behcet's disease is not supported by this data. Haplotype reconstruction analysis showed that haplotype of T-T-G (TNFR2, -1493/-196/-1466) in Behcet's disease may have protective effect on gastrointestinal involvement of this disease.