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Updated: Dec 1, 2025

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
Published on: June 16, 2020
Molecular "omic" signatures in systemic sclerosis
Bhaven K Mehta1, Monica E Espinoza1, Monique Hinchcliff2
1Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, USA.
Abstract:
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.
Insights
Systemic sclerosis (SSc) is a complex connective tissue disorder. Integrating diverse "omics" data, including genomic and epigenomic, is crucial for understanding SSc heterogeneity and advancing precision medicine.
Area of Science:
- Rheumatology
- Immunology
- Genetics
Background:
- Systemic sclerosis (SSc) is a connective tissue disease with immunologic, vascular, and matrix abnormalities.
- Clinical heterogeneity in SSc suggests variations in deregulated molecular pathway activation.
- Recent advancements have yielded substantial
- "omics" data in SSc research.
Purpose of the Study:
- To review the existing
- "omics" level research in Systemic sclerosis.
- To highlight the insights gained from each
- "omics" layer.
- To emphasize the importance of integrating multi-omics data for SSc.
Main Methods:
- Comprehensive literature review of
- "omics" studies in Systemic sclerosis.
- Analysis of genomic, transcriptomic, metagenomic, and epigenomic data.
- Synthesis of findings to understand SSc pathogenesis and heterogeneity.
Main Results:
- Each
- "omics" layer provides distinct perspectives on SSc.
- Genomic data reveals inherited predispositions.
- Transcriptomic, epigenomic, and metagenomic data offer insights into dynamic molecular changes and environmental influences.
Conclusions:
- Integrating diverse
- "omics" data (genomic, transcriptomic, epigenomic, metagenomic) is essential for a holistic understanding of SSc.
- Multi-omics integration is a critical step towards developing precision medicine approaches for SSc.
- This integrated approach is vital for identifying targeted and effective therapies for SSc patients.
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