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Journal Articles European Journal of Internal Medicine Year : 2009

Genetic susceptibility to systemic sclerosis From clinical aspect to genetic factor analyses

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Abstract

Abstract Background Systemic sclerosis is a rare autoimmune disease mainly characterized by vascular alteration and fibrosis involving skin but also visceral organs such as lungs, digestive tract, and heart. This disease leads to high morbidity and mortality. Its pathogenesis remains unclear, but recent attention has focus on genetic factors. Objective We first recall the main manifestations associated with systemic sclerosis and leading to its diagnosis and prognosis. Then we propose an overview on human genetics studies, as a number of genetic loci have been identified that appear to be associated with the disease. Methods Articles concerning association studies with candidate genes encoding for extracellular matrix proteins, cytokines, growth factors, chemokines, and proteins involved in vascular tone and immune regulations are presented and discussed. Results/conclusion Systemic sclerosis is a multigenic complex disorder. Genetic associations are observed in distinct phenotypes such as the diffuse cutaneous form or the limited form, or in association with specific autoantibody pattern. Promising candidate genes are those involved in pathways that lead to the vascular damage and fibrosis. A better knowledge of crucial mediators involved in systemic sclerosis could in the future provide new therapeutic strategies to control the disease.
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Dates and versions

hal-01592699 , version 1 (25-09-2017)

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Brigitte Granel, Fanny Bernard, Christophe Chevillard. Genetic susceptibility to systemic sclerosis From clinical aspect to genetic factor analyses. European Journal of Internal Medicine, 2009, 20 (3), pp.242-252. ⟨10.1016/j.ejim.2008.07.012⟩. ⟨hal-01592699⟩

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