Human Genetics

, Volume 131, Issue 7, pp 1023–1037 | Cite as

Unraveling the genetic component of systemic sclerosis

  • José Ezequiel Martín
  • Lara Bossini-Castillo
  • Javier MartínEmail author
Review Paper


Systemic sclerosis (SSc) is a severe connective tissue disorder characterized by extensive fibrosis, vascular damage, and autoimmune events. During the last years, the number of genetic markers convincingly associated with SSc has exponentially increased. In this report, we aim to offer an updated review of the classical and novel genetic associations with SSc, analyzing the firmest and replicated signals within HLA and non-HLA genes, identified by both candidate gene and genome-wide association (GWA) studies. We will also provide an insight into the future perspectives and approaches that might shed more light into the complex genetic background underlying SSc. In spite of the remarkable advance in the field of SSc genetics during the last decade, the use of the new genetic technologies such as next generation sequencing (NGS), as well as the deep phenotyping of the study cohorts, to fully characterize the genetic component of this disease is imperative.


Celiac Disease Pulmonary Arterial Hypertension Mixed Connective Tissue Disease Undifferentiated Connective Tissue Disease Simeon 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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© Springer-Verlag 2012

Authors and Affiliations

  • José Ezequiel Martín
    • 1
  • Lara Bossini-Castillo
    • 1
  • Javier Martín
    • 1
    Email author
  1. 1.Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Consejo Superior de Investigaciones Científicas, Parque Tecnológico Ciencias de la SaludGranadaSpain

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