摘要
硬皮病是一种复杂的自身免疫性疾病,其主要特征有微血管受损和组织器官纤维化,根据其发病累及范围不同,主要分为系统性硬皮病和局限性硬皮病两种类型。硬皮病发病症状复杂,发病机制不明,导致治疗效果不甚理想。硬皮病发病有家族聚集现象及种族差异,表明硬皮病具有遗传易感性。近年来许多研究集中于寻找硬皮病发病的遗传因素,并已发现有多种候选基因及通路参与硬皮病的发生与发展过程。然而,不同人群中的研究结果并未得出完全一致的结论,群体遗传结构的差异可能与硬皮病的发生密切相关。
Scleroderma is a complex autoimmune disease that mainly characterized by microvascular alteration and fibrosis of the skin and visceral organs.There are two major subgroups according to the implicative range of scleroderma：localized scleroderma and systemic sclerosis.Scleroderma is a syndrome with various phenotypes.The pathogenesis remains unclear and the therapeutic outcome has been poor so far.Familial clustering and differences in phenotypes among race and ethnic groups suggest that genetic factors contribute to scleroderma.Recently,many studies focused on genetic factors and have identified a lot of genes/pathways that are involved in the pathogenesis.However,in the studies of scleroderma among different races,the reports about the polymorphisms of candidate genes are partly conflicting.Therefore,the genetic factors may be closely related with the etiology of scleroderma.
出处
《复旦学报（医学版）》
CAS
CSCD
北大核心
2011年第3期257-264,共8页
Fudan University Journal of Medical Sciences
基金
国家自然科学基金面上项目(30971594)
上海市科委"科技创新行动计划"基础研究重点科技项目(10JC1402100)
关键词
硬皮病
发病机制
遗传因素
种族差异
scleroderma
pathogenesis
genetic factors
race difference
