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The Genetics of Scleroderma

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Abstract

The importance of the genetic component in the pathogenesis of scleroderma, or systemic sclerosis, has been strengthened in the past 2 years with studies on genetic markers–either candidate gene or genome-wide association studies—in large case–control series. Multiple genes have been consistently associated with susceptibility to scleroderma, and interestingly, several of them are involved in immune regulation. Because many of these genes are shared with other autoimmune diseases, a common underlying autoimmune mechanism has been proposed. The challenge that lies ahead is to confirm these associations and to find markers or pathways that are unique to scleroderma and that may define its distinctive phenotype.

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Acknowledgments

This work was supported by grants SAF2009-11110, Junta de Andalucía; grants CTS-4977 and CTS-180; and by the RETICS Program, RD08/0075 (RIER) from Instituto de Salud Carlos III (to Dr. Martin) and by the Raynaud’s and Scleroderma Association, Arthritis Research UK, and the Scleroderma Society (Dr. Fonseca).

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No potential conflicts of interest relevant to this article were reported.

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Authors and Affiliations

  1. CSIC, Instituto de Parasitología y Biomedicina López Neyra, Avenida Conocimiento s/n 18100 Armilla, Granada, Spain

    Javier Martin

  2. Centre for Rheumatology, University College Medical School, Rowland Hill Street, London, NW3 2PF, UK

    Carmen Fonseca

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  1. Javier Martin
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  2. Carmen Fonseca
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Correspondence to Javier Martin.

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Martin, J., Fonseca, C. The Genetics of Scleroderma. Curr Rheumatol Rep 13, 13–20 (2011). https://doi.org/10.1007/s11926-010-0139-5

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  • DOI: https://doi.org/10.1007/s11926-010-0139-5

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