The genetics of systemic sclerosis

Discov Med. 2010 Aug;10(51):134-43.


Systemic sclerosis (SSc, scleroderma) is an autoimmune disease clinically characterized by progressive fibrosis in the skin and internal organs. While the pathogenesis of SSc is not completely understood, familial studies and genetic studies suggest that SSc is a complex polygenic disease. In the current review, we will discuss recent studies investigating genetic susceptibility to SSc. Candidate gene studies have identified critical immunoregulatory genes and gene regions including BANK1, FAM167A-BLK, IL23R, IRF5, STAT4, TBX21, and TNFSF4 as susceptibility genes for the development of SSc. More recently a genome-wide association study has been performed and identified CD247 (CD3-zeta) as a novel genetic risk factor for the susceptibility to SSc. Together these genetic association studies have substantially advanced our understanding of SSc pathogenesis and form the foundation for future studies seeking to understand the complexities of SSc.

Publication types

  • Review

MeSH terms

  • Family
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • HLA Antigens / genetics
  • Humans
  • Scleroderma, Systemic / genetics*


  • HLA Antigens