肿瘤坏死因子基因多态性与白塞病的临床相关性

Clinical relevance of tumor necrosis factor gene polymorphisms in patients with Behcet′s disease

白塞病(Behcet′s disease,BD)是一种以复发性口腔溃疡、生殖器溃疡、皮肤和眼部损害为特点的系统性、炎症性疾病。作为促炎细胞因子,肿瘤坏死因子(tumor necrosis factor,TNF)的"过表达"在BD的发病机制中起重要作用。而TNF基因区域的寡核苷酸基因多态性与TNF表达水平密切相关。综述目前研究认为,TNF-1031C/T和-238A/G可增加BD的发病风险,-857T/C则可减少其发病风险;对TNF-308A/G的不同研究结果尚存在差异;新近研究发现的TNF-646A等位基因多态性可能参与影响BD的发病。

Behcet＇s disease （BD） is a systemic inflammatory disorder that is mainly characterized by recurrent oral and genital ulcers, skin and ocular lesions. Overexpression of tumor necrosis factor （TNF）, an important proinflammatory cytokine, is implicated in the pathogenesis of BD. Individual differences in TNF-α expression are related to several single nucleotide polymorphisms （SNPs） in the TNF gene region. The results of relevant studies suggest that TNF-1031C/T and-238A/G increase the risk of BD, while TNF-857T/C decrease the risk; the results about TNF-308A/G polymorphism are not consistent;a novel TNF-646A polymorphism is considered to be a potential genetic background in BD.