Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases
Authors' conclusion
Together, this suggests common molecular mechanisms potentially underlying overlapping clinical manifestations shared among different disorders and informs clinical heterogeneity, which could be translated to improve disease diagnostic and treatment, also in more generalized disease frameworks.
Study context
- Population
- Scandinavian patients with systemic inflammatory autoimmune diseases (SIADs) (systemic lupus erythematosus (SLE), pSS, myositis) and controls≈1,900 immune-related genes sequenced
- Participants
- 2,292 vs 1,252
- Comparison
- Patients with SIADs (SLE, pSS, myositis) vs controls; patient subgroups with vs without specific autoantibodies
- SIADsn = 2,292
- Controlsn = 1,252reference
Methodological detailstargeted DNA sequencing, case-control and case-case comparisons, gene-based functionally weighted genetic score, in silico functional analyses, in vitro reporter experiments
- Targeted DNA sequencing
- Case-control and case-case comparisons
- Gene-based functionally weighted genetic score
- In silico functional analyses
- In vitro reporter experiments
Main finding
As reported in the abstract
- Case-control analysis detected known and potentially novel genetic loci linked to the SIAD autoimmune background
- Subgroups defined by ANA and anti-dsDNA have unique genetic profiles reflecting their heterogeneity
- DUSP1 protective genetic variants lead to increased gene expression and potentially anti-inflammatory effects on the SIAD-associated skin phenotype
Observational data: associations, not effects.
Original publication
Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases. Arthritis Rheumatol. Published 25 October 2024. doi:10.
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