Seminars in Immunopathology

, Volume 37, Issue 5, pp 443–451 | Cite as

Genetics of systemic sclerosis

  • Lara Bossini-Castillo
  • Elena López-Isac
  • Maureen D. Mayes
  • Javier MartínEmail author


Systemic sclerosis (SSc) is connective tissue disorder in which fibrosis of the skin and internal organs is the main hallmark. Despite the difficulties of studying a complex disease, significant advances have been achieved in the SSc genetics field. In this review, we will describe the firmest genetic susceptibility markers known to date. We will analyze the most recent findings in the HLA region and in non-HLA genes. Furthermore, we will propose functional connections of these loci with the mechanisms involved in SSc pathogenesis. However, only non-HLA genetic regions that have been associated with SSc at the genome-wide significance level or that have been reported to be associated with the disease in at least two different independent studies will be considered. In spite of the increasing number of SSc genetic susceptibility factors identified, further studies with larger sample sizes, deeper phenotype characterization of the patients and innovative analyses will be needed to translate SSc genetics into clinical practice and patient care in the future.


Systemic sclerosis Scleroderma Genetics Polymorphism SNP HLA 



This review was supported by the following grants: molecular reclassification to find clinically useful biomarkers for systemic autoimmune diseases (PRECISESAD) Innovative Medicines Initiative (IMI) partnership between the European Commission (FP7/2007-2013) and the European Federation of Pharmaceutical Industries and Associations (EFPIA) (ref: 115565); Identificación de nuevos factores genéticos comunes en enfermedades autoinmunes sistémicas mediante el análisis conjunto de estudios de asociación del genoma completo (meta-GWAS). (BIO-1395) Proyecto de Excelencia, Consejería de Innovación, Ciencia y Tecnología, Junta de Andalucía; Beyond genome-wide association studies: new strategies for identifying genetic determinants of scleroderma (SAF2012-34435) Ministerio de Economía y Competitividad. Principal investigator was as follows: Prof. Javier Martín Ibáñez, MD, PhD.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  • Lara Bossini-Castillo
    • 1
  • Elena López-Isac
    • 1
  • Maureen D. Mayes
    • 2
  • Javier Martín
    • 1
    Email author
  1. 1.Consejo Superior de Investigaciones Científicas (IPBLN-CSIC)Instituto de Parasitología y Biomedicina López-Neyra, PTS GrandaGranadaSpain
  2. 2.The University of Texas Health Science Center at HoustonHoustonUSA

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