Dimitris Boumpas and colleagues recently published a study in Annals of the Rheumatic Diseases Journal

This is the first  comprehensive profiling of the ‘genomic architecture’ of systemic lupus erythematosus (SLE) by combining genetic and transcriptomic analysis by next-generation RNA sequencing.  SLE has three distinct gene signatures: susceptibility, activity and severity signatures, the last best illustrated in nephritis which is enriched in ‘druggable’ granulocyte and plasmablast/plasma cell pathways. Patients with SLE exhibit perturbed mRNA splicing in genes enriched in immune system and interferon signalling pathways.  Blood transcriptome discriminates SLE versus healthy individuals with high accuracy and can distinguish active versus inactive/low disease activity states.  DNA polymorphisms that confer susceptibility to SLE regulate gene expression not only in the blood but also in multiple other tissues, which may explain the multiorgan involvement in SLE. Characterisation of the ‘genomic architecture’ of SLE provides additional clues to the understanding of the systemic nature of the disease, its marked heterogeneity and novel targets of therapy and biomarkers for diagnosis/ monitoring.

The work was done in collaboration with Dr Bertsias Group (University of Crete and IMBB)

Combined genetic and transcriptome analysis of patients with SLE: distinct, targetable signatures for susceptibility and severity
Panousis NI, Bertsias GK, Ongen H, Gergianaki I, Tektonidou MG, Trachana M, Romano-Palumbo L, Bielser D, Howald C, Pamfil C, Fanouriakis A, Kosmara D, Repa A, Sidiropoulos P, Dermitzakis ET, Boumpas DT.  Ann Rheum Dis. 2019 Jun 5. pii: annrheumdis-2018-214379. doi: 10.1136/annrheumdis-2018-214379.