摘要系统性硬皮病是一种多系统性自身免疫性疾病,其病理基础为微血管异常、免疫异常激活,并最终导致皮肤及内脏器官的过量纤维化.系统性硬皮病有着不同的、相互重叠且分界并不清楚的许多亚型,临床上,根据皮肤的受累程度,系统性硬皮病可以分为两个主要亚型:局限性系统性硬皮病以及弥漫的系统性硬皮病.两种亚型都可以累及肺、心脏、肾脏、食管以及肌肉骨骼系统等内脏器官.其发病机制及遗传背景尚未清楚,国外已经针对系统性硬皮病进行了多次全基因组关联分析研究,发现多个人类白细胞抗原相关基因及非人类白细胞抗原相关基因.未来除了全基因组关联分析研究外,针对序列拷贝数量的变异以及表观遗传的变异也是研究的重点.

abstractsSystemic scleroderma (SSc) is a complex polygenic and multisystem autoimmune disease.The pathological basis of SSc includes microvascular abnornmalities and aberrant immune activation,which ultimately induce excessive fibrosis of skin and internal organs.There are many distinct but overlapping subtypes of SSc.Clinically,it can be divided into two major subtypes according to the degree of skin involvement:limited systemic scleroderma (lcSSc) and diffuse systemic scleroderma (dcSSc),both of which can affect the lung,heart,kidney,esophagus,musculoskeletal system and other internal organs.The pathogenesis and genetic background of SSc are still unclear.Many genome-wide association studies (GWAS) have been conducted abroad for SSc,and have found multiple human leucocyte antigen (HLA)-related and -unrelated genes.Besides GWAS,copy number variation (CNV) and epigenetic changes will also be hot spots in this field in the future.