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Insights into the genetic basis of systemic sclerosis: immunity in human disease and in mouse models

Authors Wu M, Mayes M

Received 16 May 2014

Accepted for publication 5 July 2014

Published 26 September 2014 Volume 2014:4 Pages 143—151


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Minghua Wu, Maureen D Mayes

Division of Rheumatology and Clinical Immunogenetics, Department of Internal Medicine, University of Texas Medical School at Houston, Houston, TX, USA

Abstract: Systemic sclerosis (SSc; scleroderma) is a chronic, multisystem autoimmune disease characterized by vasculopathy, fibrosis, and autoantibodies. In the past decade, great efforts have been made to investigate genetic susceptibility for SSc. To date, over 20 gene loci have been identified as risk factors for SSc in large genome-wide association studies and confirmed by independent replication studies. However, the biological relevance of these genetic associations is still largely unknown. Exploring the mechanism behind these risk loci is essential to better understand disease pathogenesis and to identify novel therapeutic targets. Mouse model studies including knockout, knockin and knockdown of these genes can advance our understanding of pathogenic cellular and molecular mechanisms in human disease. Although such mouse model systems do not exactly correspond to human disease, they can provide insight into pathological mechanisms that influence disease pathways. In this review, we discuss recent findings regarding the genetic basis of SSc in the setting of genetic manipulation of these pathways in murine models.

Keywords: GWAS, Immunochip study, type I interferon pathway, genetic mutation animal models

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