Genetic epidemiology: systemic sclerosis

Arthritis Res. 2002;4(3):165-8. doi: 10.1186/ar402. Epub 2002 Jan 16.


Systemic sclerosis (SSc) is a multisystem connective tissue disease characterised phenotypically by fibrosis and ischaemic atrophy. Its aetiology is most likely multifactorial. A genetic predisposition to the condition is suggested by reports of familial SSc (a positive family history is the strongest risk factor yet identified), by animal models, and by disease-association studies, in which researchers have examined a wide variety of genes including those involved in fibrosis, in vascular function and structure, and in autoimmunity - the relative rarity of SSc has precluded linkage studies, except in the Choctaw Indians. Recent advances in genetic methodologies should further our understanding of this complex disease process.

Publication types

  • Review

MeSH terms

  • Animals
  • Australia / epidemiology
  • Disease Models, Animal
  • Female
  • Genetic Linkage
  • Genetic Predisposition to Disease
  • Humans
  • Indians, North American
  • Male
  • Scleroderma, Systemic / epidemiology*
  • Scleroderma, Systemic / genetics*
  • United States / epidemiology