Cellular and Molecular Diversity in Scleroderma. (December 2021)

• Record Type: Journal Article
• Authors: Hinchcliff, Monique; Garcia-Milian, Rolando; Di Donato, Stefano; Dill, Karin; Bundschuh, Elizabeth; Galdo, Francesco Del
• Is Part Of: Seminars in immunology. Volume 58(2021)
• Publication Date: 2021-12
• Subjects: SSc Systemic sclerosis -- GWAS Genome-wide association studies -- SNP Single nucleotide polymorphism -- MeSH Medical subject heading -- PheGenI Penotype-genotype Integrator -- NCBI National Center for Biotechnology -- PheWAS Phenome-wide Association Study -- mRSS modified Rodnan skin score -- TGF-beta Transforming Growth Factor-beta -- IFN Interferon -- M2 Type-2 macrophage -- M1 Type-1 macrophage -- TGFRB Transforming Growth Factor Receptor beta -- TLR Toll-like receptor -- pDC plasmacytoid dendritic cell -- ILD interstitial lung disease -- IPF idiopathic pulmonary fibrosis -- AT1 Type-1 alveolar cell -- AT2 Type-2 alveolar cell -- ELF enhanced liver fibrosis -- DAVIX digital artery volume index -- EUSTAR European Scleroderma Trials and Research; Immunology -- Periodicals; Allergy and Immunology -- Periodicals; Immunity -- Periodicals; Immunologie -- Périodiques; Electronic journals; 616.079
• DOI: 10.1016/j.smim.2022.101648
• Languages: English
• ISSNs: 1044-5323

Abstract

Abstract: With the increasing armamentarium of high-throughput tools available at manageable cost, it is attractive and informative to determine the molecular underpinnings of patient heterogeneity in systemic sclerosis (SSc). Given the highly variable clinical outcomes of patients labelled with the same diagnosis, unravelling the cellular and molecular basis of disease heterogeneity will be crucial to predicting disease risk, stratifying management and ultimately informing a patient-centered precision medicine approach. Herein, we summarise the findings of the past several years in the fields of genomics, transcriptomics, and proteomics that contribute to unraveling the cellular and molecular heterogeneity of SSc. Expansion of these findings and their routine integration with quantitative analysis of histopathology and imaging studies into clinical care promise to inform a scientifically driven patient-centred personalized medicine approach to SSc in the near future.