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Systemic Sclerosis

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Genetics of Rare Autoimmune Diseases

Part of the book series: Rare Diseases of the Immune System ((RDIS))

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Abstract

Systemic sclerosis (SSc) is a complex autoimmune disease (AD) characterized by vascular damage, immune imbalance, and fibrosis of the skin and internal organs. The disease represents one of the autoimmune rheumatic diseases with highest mortality, and its low prevalence classifies the disorder as a rare disease. Although the etiology remains unknown, it is thought to result from a complex interaction between multiple genetic risk factors, each of them with a modest effect in the disease susceptibility, and environmental features, triggering the onset of the disease and affecting its severity and progression. In this chapter, we will review the current knowledge of the genetic component described for the disease, offering an overview of the most relevant studies performed in the field of SSc genetics. Additionally, the chapter provides an insight into the role of the SSc susceptibility loci in the pathogenic mechanisms that characterize the disorder. Finally, we will explore the functional characterization of the SSc-associated variants and discuss about future directions.

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Authors and Affiliations

  1. Institute of Parasitology and Biomedicine López-Neyra (IPBLN), CSIC, PTS Granada, Granada, Spain

    Elena López-Isac, Marialbert Acosta-Herrera & Javier Martín

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  1. Elena López-Isac
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  2. Marialbert Acosta-Herrera
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  3. Javier Martín
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Correspondence to Elena López-Isac .

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  1. Institute of Parasitology and Biomedicine, Lopez-Neyra, CSIC, Granada, Spain

    Javier Martín

  2. Department of Genetics, University of Granada, Armilla, Granada, Spain

    Francisco David Carmona

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López-Isac, E., Acosta-Herrera, M., Martín, J. (2019). Systemic Sclerosis. In: Martín, J., Carmona, F. (eds) Genetics of Rare Autoimmune Diseases. Rare Diseases of the Immune System. Springer, Cham. https://doi.org/10.1007/978-3-030-03934-9_2

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  • DOI: https://doi.org/10.1007/978-3-030-03934-9_2

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