Next generation sequencing analysis reveals complex genetic architecture of childhood-onset systemic lupus erythematosus
Authors' conclusion
Patients with cSLE from this ancestrally and geographically diverse cohort are enriched for common cSLE risk variants compared with controls, and 11% carry a rare variant in known monogenic SLE risk genes.
Study context
- Population
- Ancestrally and geographically diverse cohort of patients with childhood-onset SLE and their unaffected parents
- Participants
- 83 vs 109
- Exposure
- Patients with cSLE vs unaffected parents and controls
- cSLEn = 83
- Unaffected parentsn = 109reference
- Outcome
- Genetic architecture of cSLE
Methodological detailswhole genome sequencing, diverse cohort
- Whole genome sequencing
- Diverse cohort
Main finding
As reported in the abstract
Rare SLE risk variants in individuals with cSLE
11%
Observational data: associations, not effects.
Further findings
Type I interferon (IFN) gene expression
- Elevated in cSLE vs unaffected parents and controls, despite most patients on immunosuppressive therapy
- Quantified on a subset of patients
Original publication
Next generation sequencing analysis reveals complex genetic architecture of childhood-onset systemic lupus erythematosus. Lupus Sci Med. Published 10 June 2025. doi:10.
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