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Unraveling the genetic component of systemic sclerosis

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Abstract

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.

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Authors and Affiliations

  1. Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Consejo Superior de Investigaciones Científicas, Parque Tecnológico Ciencias de la Salud, Avenida del Conocimiento s/n 18100-Armilla, Granada, Spain

    José Ezequiel Martín, Lara Bossini-Castillo & Javier Martín

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  1. José Ezequiel Martín
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  2. Lara Bossini-Castillo
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  3. Javier Martín
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Correspondence to Javier Martín.

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Martín, J.E., Bossini-Castillo, L. & Martín, J. Unraveling the genetic component of systemic sclerosis. Hum Genet 131, 1023–1037 (2012). https://doi.org/10.1007/s00439-011-1137-z

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  • DOI: https://doi.org/10.1007/s00439-011-1137-z

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