Current Rheumatology Reports

, 21:44 | Cite as

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

  • Marialbert Acosta-HerreraEmail author
  • Elena López-Isac
  • Javier  MartínEmail author
Scleroderma (J Varga, Section Editor)
Part of the following topical collections:
  1. Topical Collection on Scleroderma


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.


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.


Scleroderma Genomic medicine Genetic risk factors Susceptibility loci Drug reposition 



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.

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.


Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019
corrected publication 2019

Authors and Affiliations

  1. 1. Cellular Biology and ImmunologyInstitute of Parasitology and Biomedicine López-Neyra (IPBLN), CSIC, PTS Granada ArmillaSpain

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