Department of Genetics, Dartmouth Medical School, Hanover, NH 03755, USA.
Expert Rev Clin Immunol. 2011 Jul;7(4):463-73. doi: 10.1586/eci.11.41.
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.
系统性硬化症（SSc）的临床表现和基础科学研究结果存在异质性，这阻碍了对发病机制的理解和有效治疗方法的发展。SSc 的全基因组分析测量了这种异质性。与健康对照相比，弥漫性 SSc 皮肤的基因表达研究显示出可重复的、具有疾病特异性的基因表达特征，而且令人惊讶的是，在病变和非病变皮肤中都发现了具有疾病特异性的基因表达。在外周血细胞和肺部也已经证明了 SSc 特异性基因表达。假设驱动的方法评估了个体途径的贡献，为基因表达亚群的病因提供了深入了解。
