The Mechanistic Implications of Gene Expression Studies in SSc: Insights From Systems Biology

Regulator combinations identify systemic sclerosis patients with more severe disease

“…We have previously identified “intrinsic” subsets of SSc (fibroproliferative, inflammatory, limited, and normal-like) based upon skin gene expression ( 5 – 7 ) that may predict response to therapy ( 8 , 9 ). Analysis of skin gene expression across cohorts identified interactions between immune and stromal cells that may act as key drivers of SSc pathogenesis in patients with a permissive genetic background ( 10 , 11 ).…”

Big data in systemic sclerosis: Great potential for the future

“…Further analyses of these data from SSc studies are likely to continue to provide insight into disease pathology, thus allowing us to develop better and more targeted therapies for SSc. 20 Marquez et al used a cross-disease meta-analysis of genome-wide association study (GWAS) and Immunochip data from 37,159 patients with seropositive autoimmune disease that included 3477 patients with SSc. The analysis identified eight loci associated with SSc that have not been previously reported, including locus rs10931468 located within the NAB1 gene that has not been previously associated with any of the diseases analyzed.…”