Multiple genes, especially immune-regulating genes, contribute to disease susceptibility in systemic sclerosis

Systemic sclerosis (SSc) is a complex autoimmune disorder that occurs in a genetically susceptible host. Genetic studies of SSc in recent years have defined or suggested a number of new genes with polymorphisms conferring susceptibility to or protection against SSc.

Although not all genes fall neatly into one functional category, the major genes with polymorphisms associated with SSc are those involved in immune regulation and inflammation, especially T-cell differentiation, proliferation, activation, B-cell signaling, and innate immunity.

Understanding the functions of SSc-associated genes will provide important new insights in future studies to explore the pathogenesis of SSc, as well as to develop targeted therapies for SSc.