Genetic factors in systemic sclerosis

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Genetic factors in systemic sclerosis

A number of genetic loci have been identified that appear to be associated with systemic sclerosis (SSc; scleroderma). There is mounting evidence suggesting that these genetic associations may in fact be associated with distinct phenotypes in SSc based on autoantibody pattern rather than with SSc as a single disease entity. This may ultimately have implications for approaches to therapy as well...

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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 re...

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Factors affecting survival in juvenile systemic sclerosis.

OBJECTIVES To determine whether demographic, clinical and immunological features may predict the outcome in juvenile SSc (JSSc). METHODS Clinical and laboratory characteristics of patients with JSSc collected from paediatric rheumatology centres worldwide were analysed. First, univariate tests identified those features significantly related with fatal outcome, and then multivariate logistic r...

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High frequency skin ultrasonography in systemic sclerosis

Background: Systemic sclerosis is an autoimmune connective tissue disorder which is characterised by cutaneous and internal organ fibrosis. Raynaud’s phenomenon is the earliest feature and may precede the onset of the disease by months to years. The heart, lungs, gastrointestinal tract, kidneys and other organs may be involved. Our aim was to evaluate skin thickness and echogenicity in systemic...

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Deciphering the genetic background of systemic sclerosis.

Systemic sclerosis (SSc) is a severe autoimmune connective tissue disease. Over the years, evidence for a genetic background of SSc susceptibility has clearly accumulated. This article aims to provide an extensive overview of genetics in SSc research. We discuss indicators for a genetic component present in SSc, family studies, chromosomal aberrances, the involvement of the HLA region and multi...

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ژورنال

عنوان ژورنال: Arthritis Research & Therapy

سال: 2007

ISSN: 1478-6354

DOI: 10.1186/ar2189