Lin Chia-Hui, Wang Shu-Chen, Ou Tsan-Teng, Li Ruei-Nian, Tsai Wen-Chan, Liu Hong-Wen, Yen Jeng-Hsien
Division of Rheumatology, Department of Internal Medicine, Kaohsiung Medical University Hospital, 100 Zihyou 1st Road, Kaohsiung City 807, Taiwan.
J Clin Immunol. 2008 May;28(3):207-13. doi: 10.1007/s10875-007-9156-1.
To investigate the associations of IkappaBalpha gene polymorphisms with the development and clinical manifestations of systemic lupus erythematosus (SLE), 110 patients with SLE and 120 unrelated healthy controls were enrolled in this study. The IkappaBalpha -881 A/G, -826 C/T, -550 A/T, -519 C/T, and -297 C/T polymorphisms were determined by the polymerase chain reaction/reaction fragment length polymorphism method. The genotype frequency of IkappaBalpha -826 C/T in the patients with SLE was significantly higher than that of the controls (p = 0.003, OR = 2.2, 95% CI = 1.3-3.9). The SLE patients also have significantly higher carriage rate of IkappaBalpha -826 T than the controls (p = 0.01, OR = 2.0, 95% CI = 1.2-3.4). We also found that the estimated haplotype frequency of IkappaBalpha -881A -826T -550A -519C -297C was significantly increased in the patients with SLE in comparison with that of the controls. This study also demonstrated that the association of IkappaBalpha -826 T with SLE was independent of HLA-DR15, which is associated with susceptibility to SLE in Taiwan. Moreover, a synergistic effect could also be found between IkappaBalpha -826 T and HLA-DR15. IkappaBalpha -826 T is associated with the development of SLE in Taiwan. The IkappaBalpha -881A -826T -550A -519C -297C haplotype is also associated with susceptibility to SLE. This study also demonstrated that IkappaBalpha -881G was associated with the occurrence of vasculitis in SLE patients. IkappaBalpha -550T might be a protective factor for the development of malar rash.
为了研究IκBα基因多态性与系统性红斑狼疮（SLE）的发生及临床表现之间的关联，本研究纳入了110例SLE患者和120例无亲缘关系的健康对照。采用聚合酶链反应/反应片段长度多态性方法检测IκBα -881 A/G、-826 C/T、-550 A/T、-519 C/T和-297 C/T多态性。SLE患者中IκBα -826 C/T的基因型频率显著高于对照组（p = 0.003，OR = 2.2，95% CI = 1.3 - 3.9）。SLE患者中IκBα -826 T的携带率也显著高于对照组（p = 0.01，OR = 2.0，95% CI = 1.2 - 3.4）。我们还发现，与对照组相比，SLE患者中IκBα -881A -826T -550A -519C -297C单倍型的估计频率显著增加。本研究还表明，IκBα -826 T与SLE的关联独立于HLA - DR15，而HLA - DR15在台湾地区与SLE易感性相关。此外，IκBα -826 T与HLA - DR15之间还存在协同效应。在台湾地区，IκBα -826 T与SLE的发生有关。IκBα -881A -826T -550A -519C -297C单倍型也与SLE易感性有关。本研究还表明，IκBα -881G与SLE患者血管炎的发生有关。IκBα -550T可能是颧部皮疹发生的保护因素。
