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Genetic epidemiology: Systemic sclerosis

Ariane L Herrick* and Jane Worthington

Author Affiliations

Arthritis Research Campaign Epidemiology Unit, University of Manchester, Manchester, UK

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Arthritis Res 2002, 4:165-168  doi:10.1186/ar402

Published: 16 January 2002


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.

candidate genes; genetic epidemiology; scleroderma; systemic sclerosis