Associations between TBX21 Gene Polymorphisms and Korean Patients with Behcet's Disease / 대한류마티스학회지

ABSTRACT

OBJECTIVE: Behcet's disease (BD) is a chronic systemic inflammatory disease with unknown etiology. A number of clinical and laboratory findings suggest a strongly polarized Th1 immune response in BD. T-bet is a newly identified Th1 specific T-box transcription factor selectively expressed in Th1 cells. However, it is not yet clear whether the T-bet protein is involved in the proposed Th1-mediated pathogenesis of BD at the transcriptional level. Therefore, this study investigated the potential associations of two single nucleotide polymorphisms (SNPs) at positions -99 (C/G) and -1993 (T/C) in the exon and promoter regions of the TBX21 gene with susceptibility to BD in the Korean population. METHODS: 105 patients with BD and 105 healthy controls were studied. All subjects were genotyped using restriction fragment length polymorphism analysis. The genotypes of the two groups were compared with the chi-square or Fisher's exact tests. RESULTS: The genotypic and allelic distributions of the two SNPs did not differ significantly between the two groups. Furthermore, no associations between the polymorphisms and clinical manifestations were found, except a central nervous system manifestation and arthritis. Furthermore, no associations between the polymorphisms and severity were identified. CONCLUSION: TBX21 gene polymorphisms were not associated with susceptibility, clinical manifestations, or severity of BD in the Korean population.