J Korean Rheum Assoc.  2007 Jun;14(2):136-143. 10.4078/jkra.2007.14.2.136.

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

• Seo WJ
• Kim YG
• Yang SK
• Park KS
• Lee CK
• Yoo B
• Mon HB

• KMID: 1526430
• DOI: http://doi.org/10.4078/jkra.2007.14.2.136

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.

Keyword

Behcet's disease; Single nucleotide polymorphism; Haplotype

MeSH Terms

Alleles
Crohn Disease
DNA
Haplotypes
Humans
Inflammation
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Receptors, Tumor Necrosis Factor*
Tumor Necrosis Factor-alpha*
DNA
Receptors, Tumor Necrosis Factor
Tumor Necrosis Factor-alpha

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