Date: Sunday, November 8, 2020
Session Type: Poster Session C
Session Time: 9:00AM-11:00AM
Background/Purpose: Early diagnosis of axial Spondyloarthritis (axSpA) represents a major clinical challenge nowadays. Increasing evidence has determined that early diagnosis, prompt treatment initiation and early achievement of remission are the best predictors of long-term clinical, functional and radiographic outcomes. New tools to support the diagnosis and new therapeutic targets are needed.
This study aims to identify differentially expressed genes, overall and focusing in genes related with muscle function, that may improve the current clinical diagnosis approach for early axSpA and new therapeutic targets.
Methods: A cross-sectional study was conducted on 48 participants, 24 patients with axSpA (according to ASAS criteria) and 24 Healthy Controls, matched by gender, age and levels of physical activity. Peripheral blood samples were collected and RNA-Seq technology was performed. Normalization of raw data, and identification of differentially expressed genes was obtained using edgeR and limma-voom R packages. Gene Set Enrichment Analysis (GSEA) and Functional Enrichment analysis using Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) annotations were also performed. A number of Differently Expressed Genes were highlighted.
Results: 76 genes were identified as being significantly differentially expressed between patients and controls. In detail, 59 downregulated (2 genes have Logfold change more than 1) and 17 upregulated genes (2 genes have Logfold change more than 1) are highlighted. These genes are mostly involved in Innate Immune Signalling and JAK/STAT pathways; some of them were already identified as conferring susceptibility for axSpa, as MICA, TLR5 and SOC3. In addition, several genes with functions of skeletal muscle development (gene1), muscle contraction (gene2) and formation of branched actin networks (gene3), were also identified.
Conclusion: The evidence disclosed that regulation of muscle development and contraction may be also engaged in physiopathology mechanisms of axSpA. Upon validation, these new findings could open new perspectives for diagnosis and therapeutic in axSpA.
To cite this abstract in AMA style:Mashayekhi Sardoo A, Sobral D, Domingues L, Rodrigues-Manica S, Pinheiro Torres R, Neto A, Fernandes A, Alves P, Costa J, Grosso A, Cunha C, Branco J, Pimentel-Santos F. Identification of Muscle Associated Key Genes to Support Axial Spondyloarthritis Diagnosis by Transcriptomic Approach, the MyoSpA Study [abstract]. Arthritis Rheumatol. 2020; 72 (suppl 10). https://acrabstracts.org/abstract/identification-of-muscle-associated-key-genes-to-support-axial-spondyloarthritis-diagnosis-by-transcriptomic-approach-the-myospa-study/. Accessed January 23, 2022.
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