Abstract
To investigate the role ofIκBαpromoter polymorphisms in the development of Behçet’s disease, eighty-six patients with Behçet's disease and 120 healthy controls were enrolled in this study. TheIκBα; -881A/G, -826C/T, -550A/T, -519C/T, and -297C/T polymorphisms were measured by the method of polymerase chain reaction/ restriction fragment length polymorphism. This study demonstrated that the genotype frequencies ofIκBα-826C/T and -826T/T were significantly higher in the patients with Behçet's disease than in the controls. Both in the dominant and in the recessive models, the patients with Behçet's disease have higher frequencies of the IκBα -826T containing genotype than the controls. The allele frequency ofIκBα-826T was significantly increased in the patients with Behçet’s disease. The frequencies of theIκBα-881A -826T -550A -519C -297C andIκBα-881A -826T -550A -519T -297C haplotypes were significantly higher in the patients with Behçet–s disease than in the controls. In contrast, the haplotype frequency ofIκBα-881A -826C -550A -519C -297C in the patients with Behçet’s disease was significantly decreased. This study also revealed that the Behçet’s disease patients with IκBα -826T/T have higher prevalence of skin lesions than those without IκBα -826T/T. In summary, the IκBα -826T allele,IκBα-881A -826T -550A -519C -297C andIκBα-881A -826T -550A -519T -297C haplotypes might be associated with susceptibility to Behçet’s disease. TheIκBα-826T/T genotype was related to the development of skin lesions in the patients with Behçet's disease.
Highlights
Behcet’s disease is a chronic inflammatory systemic autoimmune disease characterized primarily by recurrent oral ulcers, genital ulcers, ocular inflammation, skin lesions, and vasculitis
In comparison with IκBα -826C/C, this study demonstrated that the genotype frequency of IκBα -826C/T was significantly higher in the patients with Behcet’s disease than in the controls (Table 1, p < 0.001, OR = 29.3, 95% CI = 3.7–233.1)
This study demonstrated that the IκBα -826T allele, IκBα -881A -826T -550A -519C -297C haplotype and IκBα -881A -826T -550A -519T -297C haplotype might be related to susceptibility to Behcet’s disease in Taiwan
Summary
Behcet’s disease is a chronic inflammatory systemic autoimmune disease characterized primarily by recurrent oral ulcers, genital ulcers, ocular inflammation, skin lesions, and vasculitis. The etiology of Behcet’s disease is still unknown, multiple genes and environmental factors are involved in the pathogenesis of this disease. HLA-B51 is strongly associated with susceptibility to Behcet’s disease in different ethnic groups [1]. The positive rate of HLA-B51 in Behcet’s disease is about 60% [2]. The contribution of this allele to the overall genetic susceptibility to Behcet’s disease is only about 19% [3]. Non-HLA genes may be related to the pathogenesis of this disease [4,5,6,7,8,9,10,11,12,13]. A whole-genome screening revealed the association of several non-HLA susceptibility loci with Turkish patients with Behcet’s disease [14]
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