Genetics of scleroderma: implications for personalized medicine?

BMC Medicine

Minireview

Timothy RDJ Radstake¹  Maureen D Mayes²  Shervin Assassi²  Javier Martin³ 

[1] Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Heidelberglaan 100, 3584, Utrecht, CX, The Netherlands;Division of Rheumatology and Clinical Immunogenetics, The University of Texas Health Science Center at Houston, 6431 Fannin Street, TX 77030, Houston, Texas, USA;Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Parque Tecnológico Ciencias de la Salud, Avenida del Conocimiento, 18100, Armilla, Granada, Spain;

关键词: systemic sclerosis;    scleroderma;    genetic;    biomarker;    severity;   

DOI  :  10.1186/1741-7015-11-9

 received in 2012-07-20, accepted in 2013-01-11,  发布年份 2013

来源: Springer

【 摘 要 】

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.

【 授权许可】

CC BY   
© Assassi et al; licensee BioMed Central Ltd. 2013