Mehta Bhaven K, Espinoza Monica E, Hinchcliff Monique, Whitfield Michael L
Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, USA.
Department of Rheumatology, Allergy & Immunology, Yale School of Medicine, New Haven, CT, USA.
Eur J Rheumatol. 2020 Oct;7(Suppl 3):S173-S180. doi: 10.5152/eurjrheum.2020.19192. Epub 2020 Oct 1.
Systemic sclerosis (SSc) is a connective tissue disorder characterized by immunologic, vascular, and extracellular matrix abnormalities. Variation in the proportion and/or timing of activation in the deregulated molecular pathways that underlie SSc may explain the observed clinical heterogeneity in terms of disease phenotype and treatment response. In recent years, SSc research has generated massive amounts of "omics" level data. In this review, we discuss the body of "omics" level work in SSc and how each layer provides unique insight to our understanding of SSc. We posit that effective integration of genomic, transcriptomic, metagenomic, and epigenomic data is an important step toward precision medicine and is vital to the identification of effective therapeutic options for patients with SSc.
系统性硬化症(SSc)是一种以免疫、血管和细胞外基质异常为特征的结缔组织疾病。构成SSc基础的失调分子途径中激活比例和/或时间的变化,可能解释了在疾病表型和治疗反应方面观察到的临床异质性。近年来,SSc研究产生了大量的“组学”水平数据。在本综述中,我们讨论了SSc领域“组学”水平的研究工作,以及每一层如何为我们理解SSc提供独特的见解。我们认为,基因组、转录组、宏基因组和表观基因组数据的有效整合是迈向精准医学的重要一步,对于确定SSc患者的有效治疗方案至关重要。