Genetics and genomic studies in scleroderma (systemic sclerosis)

Rheum Dis Clin North Am. 2008 Feb;34(1):17-40; v. doi: 10.1016/j.rdc.2007.10.001.


It currently is believed that scleroderma is a complex polygenic disease that occurs in genetically predisposed individuals who have encountered specific environment exposures and/or other stochastic factors. The nature of these genetic determinants and how they interact with environmental factors are areas of active investigation. This article discusses the evidence that supports a strong genetic link to scleroderma. These studies implicate potential pathogenetic mechanisms involved in scleroderma, which, it is hoped, may translate into clinical utility, including determination of disease risk, diagnosis, prognosis, and novel therapeutics.

Publication types

  • Review

MeSH terms

  • Autoantibodies / genetics*
  • Cytokines / genetics
  • Genetic Predisposition to Disease / genetics*
  • Histocompatibility Testing
  • Humans
  • Oligonucleotide Array Sequence Analysis
  • Scleroderma, Systemic / genetics*


  • Autoantibodies
  • Cytokines