大血管血管炎发病机制中的遗传因素

Genetic factors in pathogenesis of large vessel vasculitis

大血管血管炎包括大动脉炎和巨细胞动脉炎,病因涉及遗传、感染、环境、免疫反应等因素,发病机制仍待明确。在遗传背景研究方面发现,大动脉炎与HLA-Ⅰ类基因区(HLA-B*52)关系最为密切,参与炎症反应的相关基因(IL12B、IL6、RPS9/LILRB3)也发挥着重要作用。在巨细胞动脉炎中,HLA-Ⅱ类(HLA-DRB1*04、HLA-DQA1)基因区发挥着主要作用,PTPN22等非HLA基因也与巨细胞动脉炎的发病相关。

Large vessel vasculitis includes Takayasu arteritis and giant cell arteritis.The pathogenesis of large vessel vasculitis remains to be clarified,though genetics,infection,environment,immune response,and other factors may be involved.In terms of genetic factor,it has been found that Takayasu arteritis is most closely related to HLA-I gene region(HLA-B*52),while genes involved in inflammation(IL12B,IL6,RPS9/LILRB3)also play an important role.HLA-Ⅱ(HLA-DRB1*04,HLA-DQA1)gene region is mainly associated with giant cell arteritis.In addition,non-HLA genes such as PTPN22 are also related to the pathogenesis of giant cell arteritis.