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Towards a Better Classification and Novel Therapies Based on the Genetics of Systemic Sclerosis

  • Scleroderma (J Varga, Section Editor)
  • Published:
Current Rheumatology Reports Aims and scope Submit manuscript

A Correction to this article was published on 14 August 2019

This article has been updated

Abstract

Purpose of the Review

Nowadays, important advances have occurred in our understanding of the pathogenesis of systemic sclerosis (SSc), which is a rare immune-mediated inflammatory disease (IMID) characterized by vascular damage, immune imbalance, and fibrosis. Its etiology remains unknown; nevertheless, both environmental and genetic factors play a major role in the disease. This review will focus on the main advances made in the field of genetics of SSc.

Recent Findings

The assessment of how interindividual genetic variability affects disease onset and progression has enhanced our knowledge of disease biology, and this will eventually translate in the development of new diagnostic and therapeutic tools, which is the final goal of personalized medicine.

Summary

We will provide an overview of the most relevant achievements in the genetics of SSc, its shared genetics among IMIDs with special attention on drug repurposing, current challenges for the functional characterization of risk variants, and future directions.

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Change history

  • 14 August 2019

    The original version of this article unfortunately contained a mistake. The legend of Fig. 1 was incorrect.

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Funding

This work was supported by the Cooperative Research Thematic Network (RETICS) program (RD16/0012/0013) (RIER) from the Health Institute Carlos III (ISCIII) and (SAF2015–66761-P) Spanish Ministry of Economy, Industry and Competitiveness.

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Authors and Affiliations

  1. Cellular Biology and Immunology, Institute of Parasitology and Biomedicine López-Neyra (IPBLN), CSIC, PTS Granada , Av. del Conocimiento 17, 18016, Armilla, Granada, Spain

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

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

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The original version of this article was revised: The legend of Fig. 1 was corrected. Full information regarding the correction made can be found in the erratum/correction for this article.

This article is part of the Topical Collection on Scleroderma

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Acosta-Herrera, M., López-Isac, E. & Martín, J. Towards a Better Classification and Novel Therapies Based on the Genetics of Systemic Sclerosis. Curr Rheumatol Rep 21, 44 (2019). https://doi.org/10.1007/s11926-019-0845-6

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