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Biomarker discovery in systemic sclerosis: state of the art

Authors Bonella F, Patuzzo G, Lunardi C

Received 14 January 2015

Accepted for publication 8 April 2015

Published 8 July 2015 Volume 2015:5 Pages 47—68

DOI https://doi.org/10.2147/CBF.S60446

Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 2

Editor who approved publication: Dr Hung Khong


Francesco Bonella,1 Giuseppe Patuzzo,2 Claudio Lunardi2

1Interstitial and Rare Lung Disease Unit, Ruhrlandklinik University Hospital, University of Duisburg-Essen, Essen, Germany; 2Department of Medicine, University of Verona, Verona, Italy

Abstract: Systemic sclerosis (SSc) is an autoimmune disease characterized by immune dysfunction and by abnormalities of the microvasculature with vascular obliteration, eventually leading to fibrosis of the skin, gastrointestinal tract, lungs, heart, and kidney. The etiology and pathogenesis of SSc remain unclear, despite recent significant progress in the field. Immune activation and microangiopathy are followed by widespread organ fibrosis, leading to organ failure and increased mortality. The production of inflammatory cytokines and growth factors after tissue injury, as well as the presence of circulating autoantibodies, provide a source of biomarkers with potential diagnostic and prognostic applications in the clinical routine. Two principal approaches exist to discover and characterize biomarkers. The proof-of-concept approach verifies the ability of known proteins, generally involved in the pathogenesis, to correlate with disease phenotype and outcome. A proteomic approach does not need prior knowledge of the proteins or of their function, but it requires high-performance and time-consuming techniques. In this review, we highlight the most recent findings in biomarkers used to characterize SSc organ involvement, to stratify the patients, and to assess the response to treatment.

Keywords: systemic sclerosis, biomarkers, proteomics, gene expression profiling

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