Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
Dis Markers. 2010;28(1):55-62. doi: 10.3233/DMA-2010-0684.
To investigate the role of IkappaBalpha promoter polymorphisms in the development of Behçet's disease, eighty-six patients with Behçet's disease and 120 healthy controls were enrolled in this study. The IkappaBalpha -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 of IkappaBalpha -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 IkappaBalpha -826T containing genotype than the controls. The allele frequency of IkappaBalpha -826T was significantly increased in the patients with Behçet's disease. The frequencies of the IkappaBalpha -881A -826T -550A -519C -297C and IkappaBalpha -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 of IkappaBalpha -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 IkappaBalpha -826T/T have higher prevalence of skin lesions than those without IkappaBalpha -826T/T. In summary, the IkappaBalpha -826T allele, IkappaBalpha -881A -826T -550A -519C -297C and IkappaBalpha -881A -826T -550A -519T -297C haplotypes might be associated with susceptibility to Behçet's disease. The IkappaBalpha -826T/T genotype was related to the development of skin lesions in the patients with Behçet's disease.
为了研究 IkappaBalpha 启动子多态性在 Behçet 病发病机制中的作用，本研究纳入了 86 例 Behçet 病患者和 120 名健康对照者。采用聚合酶链反应/限制性片段长度多态性方法检测 IkappaBalpha -881A/G、-826C/T、-550A/T、-519C/T 和 -297C/T 多态性。本研究表明，Behçet 病患者的 IkappaBalpha -826C/T 和 -826T/T 基因型频率明显高于对照组。在显性和隐性模型中，Behçet 病患者 IkappaBalpha -826 含 T 基因型的频率均高于对照组。Behçet 病患者 IkappaBalpha -826T 等位基因频率显著升高。Behçet 病患者 IkappaBalpha -881A -826T -550A -519C -297C 和 IkappaBalpha -881A -826T -550A -519T -297C 单倍型频率明显高于对照组。相反，Behçet 病患者 IkappaBalpha -881A -826C -550A -519C -297C 单倍型频率明显降低。本研究还表明，携带 IkappaBalpha -826T/T 的 Behçet 病患者皮肤病变的发生率高于不携带 IkappaBalpha -826T/T 的患者。综上所述，IkappaBalpha -826T 等位基因、IkappaBalpha -881A -826T -550A -519C -297C 和 IkappaBalpha -881A -826T -550A -519T -297C 单倍型可能与 Behçet 病的易感性相关。IkappaBalpha -826T/T 基因型与 Behçet 病患者皮肤病变的发生有关。
