白塞病（Behcet's disease，BD）是自身免疫及遗传等多因素致病、多系统受累的慢性炎性疾病。IL33/ST2通路是近年新发现的免疫调节信号通路，文献报道该通路在类风湿性关节炎、炎性肠病等疾病的发病中起重要作用。我们的前期研究发现BD葡萄膜炎患者血清中分泌型ST2显著升高，且其编码基因IL1RL1多态性与BD易感性相关（783例BD患者 VS 701例健康对照）。本项目拟应用MassArray iPLEX技术精细定位并鉴定IL33/IL1RL1基因（编码IL33/ST2）区域与BD相关的SNP并分析其与BD临床表现的相关性；进一步应用荧光素酶报告基因等技术研究相关SNP的功能，包括对转录因子结合能力及IL33/ST2表达水平的影响等，旨在进一步阐明BD的发病机制以及寻找新的治疗靶点。

Behçet's disease (BD) is a multi-factorial (autoimmunity, genetics, etc.), chronic and, relapsing, multisystemic inflammatory disorder. IL33/ST2, a newly discovered pathway believed to play a crucial role in immunoregulation, was reported to be associated with pathogenesis of rheumatoid arthritis and inflammatory bowel disease. Our previous studies revealed that serum ST2 increases significantly in BD uveitis patients and polymorphisms of its coding gene (IL1RL1) are associated with BD susceptibility (783 BD patients VS 701 healthy controls). In this study, we plan to fine-map BD associated single nucleotide polymorphisms (SNPs) in IL33/IL1RL1 (coding IL33/ST2) gene regions by MassArray iPLEX technique, to analyze their correlations to phenotypes of BD, and to further evaluate their roles on expression of IL-33/ST2 and associated mechanisms (such as their influences on the binding capacity of transcription factors and microRNAs). Our study aims to shed more light on the pathogenesis of BD and to identify potentially novel targets for treatment.