Study on the pathogenesis of Graves' ophthalmopathy

格雷夫斯眼病是一种自身免疫性疾病，经常与格雷夫斯病有关。然而，自身抗原的性质和遗传易感性尚未完全阐明。本研究的目的是调查细胞因子基因和免疫调节基因等候选基因的多态性。在日本和波兰的高加索人中，肿瘤坏死因子-α基因的多态性都与围棋有关。CTLA-4基因多态性与两个种族的Graves病有关，但与GO无关。IL-13基因多态性与日本人的GD易感性有关，而在波兰人中与GD易感性无关。干扰素-γ、IL-6和IL-18基因多态性与GO、TSH受体和甲状腺球蛋白mRNAs在GO患者的眼眶脂肪组织中均可检测到。然而，该基因在甲状腺中的表达水平较低。研究这些分子在轨道上的表达调控可能为GO的治疗提供线索。

Graves' ophthalmopathy is an autoimmune disorder and frequently associated with Graves' disease. However, the nature of autoantigen and genetic predisposition has not been fully clarified. The aim of the present study was to investigate the polymorphism of the candidate genes such as cytokine genes and immune regulatory genes.TNF-α gene polymorphism was associated with GO in both Japanese and Polish Caucasians. CTLA-4 gene polymorphism was associated with Graves' disease in both races, but not with GO. IL-13 gene polymorphism was associated with GD susceptibility in Japanese, but not in Polish. IFN-γ,IL-6, or IL-18 gene polymorphisms were not associated with GO.TSH receptor and thyroglobulin mRNAs were detected in orbital fat tissues from patients with GO. However, the levels of the expression were smaller than those in the thyroid. Studies on the regulation of the expression of these molecules in the orbit may provide a clue for the therapy of GO.