title: Capturing the heterogeneity in systemic sclerosis with genome-wide expression profiling.
abstract: Heterogeneity in the clinical presentation and basic science findings of systemic sclerosis (SSc) has hindered the understanding of pathogenesis and development of effective treatments. Genome-wide profiling of SSc has measured this heterogeneity. Gene expression studies of diffuse SSc skin have shown reproducible, disease-specific gene expression signatures when compared with healthy controls and, surprisingly, disease-specific gene expression was found in both lesional and non-lesional skin. SSc-specific gene expression in peripheral blood cells and the lungs has also been demonstrated. Hypothesis-driven approaches that assess the contribution of individual pathways provide insight into the etiology of gene expression subsets.
authors.affiliation: Department of Genetics, Dartmouth Medical School, Hanover, NH 03755, USA.
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Sargent
authors.forename: Michael L
authors.initials: ML
authors.lastname: Whitfield
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D020869:Gene Expression Profiling; D053263:Gene Regulatory Networks / Q000276:immunology; D055106:Genome-Wide Association Study; D006801:Humans; D007963:Leukocytes, Mononuclear / Q000276:immunology*; D008168:Lung / Q000276:immunology*; D012595:Scleroderma, Systemic / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D015398:Signal Transduction / Q000235:genetics; D012867:Skin / Q000276:immunology*; D016212:Transforming Growth Factor beta / Q000235:genetics / Q000276:immunology / Q000378:metabolism*
chemical_list: D016212:Transforming Growth Factor beta