风湿性心脏病易感基因多态性研究进展

Research progress of susceptibility genes in rheumatic heart disease

风湿性心脏病(Rheumatic heart disease,RHD)是一种A组溶血性链球菌感染引起的风湿热的后遗症,属于自身免疫性疾病,主要表现为瓣膜口狭窄或关闭不全。大约30%～45%的风湿热(Rheumatic fever,RF)患者会发展为风湿性心脏病,这就提示风湿性心脏病可能存在着个体易感性的差异。对RHD易感性的研究,有助于进一步探讨其发病的分子机制,为RHD的防治提供新的思路。随着人类基因组计划的迅速发展及新的分析技术问世,RHD遗传易感性研究有了很大的发展。目前已知多种遗传基因与人类RHD易感性有关联,例如白细胞抗原(HLA)、肿瘤坏死因子(TNF)等,某些易感基因与炎症反应及免疫系统相关,本文主要就近年来RHD遗传易感性的研究进展作一综述。

Rheumatic heart disease （RHD） is an autoimmune disease that results from valvular autoimmune response to group A streptococcal infection leading to severe valvular damage. A- bout 30% to 45% of the rhemutic fever （RF） patients develop into RHD, suggestincg that ge- netic susceptibility playes important roles in the RHD development. An understanding of the mechanisms underlying host susceptibility can provide important insights into pathogenesis that in turn can inform new treatments. The develop ment of the human genome provides conditionsfor the studies of RHD genetic susceptibility. There are some susceptibility genes have been found to be related to RHD, including human leukocyte antigen （HLA） and tumor necrosis factor （TNF）,many of these genes are associat ed with the immune response and inflammatory process. This review summarizes the recent study of these related gene polymorphisms.