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Xing Zeyu, Li Yun, Sun Qiuning. Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China Corresponding author: Sun Qiuning, Email: Sunqnzhy@yahoo.com ��Abstract�� Systemic scleroderma ��SSc�� is a complex polygenic and multisystem autoimmune disease. The pathological basis of SSc includes microvascular abnormalities 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.

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