Systemic sclerosis & Raynaud's
Alterations of the Primary Cilia Gene SPAG17 and SOX9 Locus Noncoding RNAs Identified by RNA‐Sequencing Analysis in Patients With Systemic Sclerosis
Authors' conclusion
These results identify noncoding RNAs and SPAG17 as novel factors potentially implicated in the pathogenesis of SSc.
Study context
- Population
- Systemic sclerosis (SSc) patients and unaffected controls; skin biopsy samples and peripheral blood mononuclear cells (PBMCs)
- Comparison
- SSc patients vs unaffected controls
Methodological detailsRNA-sequencing, weighted gene coexpression network analysis
- RNA-sequencing
- Weighted gene coexpression network analysis
Main finding
As reported in the abstract
- PBMCs from SSc patients showed a strong type I interferon signature, replicated in skin
- SSc skin: additional signals for increased extracellular matrix (ECM) genes, classical complement pathway activation and presence of B cells
- Marked decrease in expression of SPAG17, a cilia component, in SSc skin
- Genes correlating with mRSS, DLCO and forced vital capacity (FVC) largely distinct from case/control differentially expressed genes
- PBMCs: type I interferon signatures negatively correlated with DLCO
- SSc skin: ECM gene expression positively correlated with mRSS
- Noncoding RNAs SOX9-AS1 and ROCR, near the SOX9 locus, highly connected hub-like genes in skin network
Original publication
Alterations of the Primary Cilia Gene SPAG17 and SOX9 Locus Noncoding RNAs Identified by RNA‐Sequencing Analysis in Patients With Systemic Sclerosis. Arthritis Rheumatol. Published 29 November 2022. doi:10.
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