Purpose of review: To determine the advances made in the genetics of scleroderma in candidate gene association studies.
Recent findings: Over the past 18 months, a number of candidate gene studies using large case-control series in scleroderma have been reported. The studies have identified multiple genes involved in immune regulation including BANK1, C8orf13-BLK, IL-23R, IRF5, STAT4, TBX21, and TNFSF4 as susceptibility genes for the development of SSc. Furthermore, gene-gene interaction studies suggest that IRF5, STAT4, and BANK1 as well as TBX21 and STAT4 interact with regard to scleroderma susceptibility. Many of the genetic variants associated with SSc susceptibility are shared among other autoimmune diseases such as rheumatoid arthritis and systemic lupus erythematosus.
Summary: Candidate gene association studies have substantially advanced our understanding of the pathogenesis of SSc and demonstrate that SSc is a polygenic, autoimmune disease.