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베체트병 환자에서 TNF-α와 TNF 수용체 유전자의 다양성
서욱장 ( Wook Jang Seo ),김용길 ( Yong Gil Kim ),양석균 ( Suk Kyun Yang ),박경숙 ( Kyung Sook Park ),이창근 ( Chang Keun Lee ),유빈 ( Bin Yoo ),문희범 ( Hee Bum Mon ) 대한류마티스학회 2007 대한류마티스학회지 Vol.14 No.2
Objective: TNF-α 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-α 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-α 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-α 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.