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Genetics of scleroderma: implications for personalized medicine?

Shervin Assassi1*, Timothy RDJ Radstake2, Maureen D Mayes1 and Javier Martin3*

Author affiliations

1 Division of Rheumatology and Clinical Immunogenetics, The University of Texas Health Science Center at Houston, 6431 Fannin Street, Houston, Houston, Texas, TX 77030, USA

2 Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Heidelberglaan 100, Utrecht, 3584 CX The Netherlands

3 Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Parque Tecnológico Ciencias de la Salud, Avenida del Conocimiento, Armilla, Granada, 18100 Spain

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Citation and License

BMC Medicine 2013, 11:9  doi:10.1186/1741-7015-11-9

Published: 11 January 2013


Significant advances have been made in understanding the genetic basis of systemic sclerosis (scleroderma) in recent years. Can these discoveries lead to individualized monitoring and treatment? Besides robustly replicated genetic susceptibility loci, several genes have been recently linked to various systemic sclerosis disease manifestations. Furthermore, inclusion of genetic studies in design and analysis of drug trials could lead to development of genetic biomarkers that predict treatment response. Future genetic studies in well-characterized systemic sclerosis cohorts paired with advanced analytic approaches can lead to development of genetic biomarkers for targeted diagnostic and therapeutic interventions in systemic sclerosis.

systemic sclerosis; scleroderma; genetic; biomarker; severity