Genetic epidemiology: systemic sclerosis.
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.
Herrick
Ariane L
AL
Arthritis Research Campaign Epidemiology Unit, University of Manchester, UK. aherrick@fs1.ho.man.ac.uk
Worthington
Jane
J
D000818:Animals; D001315:Australia / Q000453:epidemiology; D004195:Disease Models, Animal; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D007198:Indians, North American; D008297:Male; D012595:Scleroderma, Systemic / Q000453:epidemiology* / Q000235:genetics*; D014481:United States / Q000453:epidemiology