Genetic epidemiology: Systemic sclerosis

Description

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.

Resources

Name Format Description Link
21 Visit the original government dataset for complete information, documentation, and data access. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC128927/

Tags

  • fibrosis-research
  • connective-tissue-disease
  • genetic-predisposition
  • nih
  • systemic-sclerosis

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