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Chapel Allerton Hospital. University of Melbourne. St James's University Hospital. Abstract en. Genetic studies have been limited. Here, we conducted detailed genetic and inflammatory biomarker analysis of a large AOSD cohort to investigate the underlying pathology and identify novel targets for potential treatment. Transcriptome profiles were investigated by bulk RNA sequencing whole blood. Transcriptome profiling revealed positive correlation between Still's activity score SAS and gene expression associated with the innate immune system.
The enriched genetic variants identified may not, by themselves, be sufficient to cause disease but may contribute to a polygenic model for AOSD. Domains Life Sciences [q-bio] Immunology. Files and preview Embargoed file. Embargoed file. Embargoed file Please log in to request access to the document. Dates and versions inserm , version 1 Share More.
