VKH综合征是我国常见的免疫性致盲眼病，其致病机制尚不明确，迄今尚无有效防治手段。最近我们全基因组关联分析发现10p21.3染色体区与汉族VKH 综合征显著相关（P＜1.0E-10）。该染色体区包含EGR2基因，功能研究显示此基因广泛表达于人眼葡萄膜组织，且发挥重要免疫调控作用，VKH患者PBMC中EGR2表达较正常人明显下调。据此推测EGR2基因可能在VKH综合征发病中发挥重要作用，其如何导致VKH综合征发生尚不清楚。本研究拟用中国汉族人、新加坡人及韩国人大宗病例进一步精确定位EGR2基因致病遗传变异，通过体内、外功能检测致病变异对mRNA表达，蛋白表达、蛋白结构等的影响，检测相关变异对Treg细胞分化、Th1、Th17比例及细胞因子分泌的影响；诱导疾病动物模型，进而研究其生物学功能和机制。此研究将可能鉴定VKH综合征致病基因及遗传变异并阐明其生物学功能，将为此病的个体化防治提供新靶点。

VKH syndrome is a common autoimmune blinding disease in China, so far there is no effective means of prevention and control, its pathogenic mechanism is unclear. Recent genome-wide association analysis we found 10 stretching 3 chromosomal region which VKH syndrome significantly correlated with the Han nationality（P＜1.0E-10）. 10p21.3 chromosome area contains EGR2 genes, studies have shown that this gene is widely expressed in the human uvea, and play an important role in immune regulation. It infer EGR2 gene may play an important role in VKH syndrome pathogenesis, and how it causes VKH syndrome is not clear. This study employs the Han Chinese, Singaporean and South Koreans in case further pinpoint EGR2 gene pathogenic genetic variation, through the body and outside function detecting pathogenic mutation of mRNA expression and protein expression, protein structure, the influence of testing related to the variation of Treg cells differentiation, Th1, the influence of the proportion of Th17 and cytokine secretion Induced disease animal model, and then study its biological function and mechanism. This research could identify VKH syndrome disease genes and genetic variation, and clarify its biological function, and will provide new targets for disease prevention and individual control.