Genetic epidemiology: systemic sclerosis

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Abstract

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

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Animal; Arthritis; Australia; Disease; Disease Models,Animal; Female; Genetic Predisposition to Disease; Human; Indians,North American; Linkage (Genetics); Male; Research; Risk; Scleroderma,Systemic; United States; epidemiology; genetics; history

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