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KMID : 1059520070510060536
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Journal of the Korean Chemical Society
2007 Volume.51 No. 6 p.536 ~ p.542
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Molecular Genetic Analysis of Behcet’s Disease in Korean
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Park Sang-Bum
Nam Youn-Hyoung
Park Su-Min
Lee Sang-Hyun
Ahn Young-Chang
Cho Min-Ho
Kim Jong-Gyu
Choi Jae-Gu
Kim Seong-Gyu
Jang Won-Choeul
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Abstract
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Behcet’s disease (BD) is a chronic inflammatory disorder, involving several organs. Inflammation in the disease is thought to be mediated by cytokines derived from T-helper type 1 (Th1) lymphocytes. Although the exact pathogenesis for BD is not completely understood, it has been suggested that the disease is triggered in genetically susceptible individuals by environmental factors, such as microbial agents. It is noted that multiple genes, including MHC (major histocompatibility complex) and non-MHC genes, are implicated in the pathogenesis of BD. This study tries to determine whether HLA-B51, IL-18, SLC11A1 and TNF-α polymorphisms are associated with susceptibility to Behcet’s disease in Koreans. As a results, HLA-B51 was a genetic factor with the strongest association with BD. But it is still uncertain whether this HLA molecule is directly involved in the pathogenesis of BD. Although the IL-18 gene polymorphisms were not associated with a susceptibility to BD in the Korean population, the patients carrying the GG genotype at position 137 had a higher risk of developing the ocular lesions. This study suggests that the allele 3 and the genotype allele 3 / allele 3 of 5’-promoter (GT)n polymorphism in the SLC11A1 gene may have a protective effect for the development of BD in the Korean population. There were no evidences for genetic association conferred by the TNF-α gene with respect to susceptibility to BD.
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KEYWORD
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BD (behcet’s disease), HLA-B51, IL-18, SLC11A1, TNF-α
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