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

PURPOSE OF REVIEW: 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.

RECENT FINDINGS: 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.

SUMMARY: 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.