Panel sequencing links rare, likely damaging gene variants with distinct clinical phenotypes and outcomes in juvenile-onset SLE
Authors' conclusion
Approximately 3.5% of jSLE patients present damaging gene variants associated with younger age at onset, and distinct clinical features.
Study context
- Population
- Patients with juvenile-onset SLE in the UK JSLE Cohort Study
- Participants
- 348 patients
- Exposure
- 'Genetic' SLE vs remaining SLE patients
- Outcome
- Identification of highly penetrant damaging mutations in genes associated with SLE/SLE-like disease
Methodological detailsgenetic sequencing study, national cohort (UK JSLE Cohort Study), target enrichment and next-generation sequencing panel
- Genetic sequencing study
- National cohort (UK JSLE Cohort Study)
- Target enrichment and next-generation sequencing panel
Main finding
As reported in the abstract
Damaging gene variants
Damaging gene variants identified in jSLE patients
∼3.5%
Observational data: associations, not effects.
Further findings
Demographics, 'genetic' vs remaining cohort
- 'Genetic' SLE affected younger children and more Black African/Caribbean patients
Clinical features
- Less organ involvement and damage in 'genetic' SLE; neuropsychiatric involvement developed over time
Treatment
- Less aggressive first-line treatment but more second- and third-line agents in 'genetic' SLE
Autoantibodies
- 'Genetic' SLE associated with anti-dsDNA positivity at diagnosis and reduced ANA, anti-LA and anti-Sm positivity at last visit
Original publication
Panel sequencing links rare, likely damaging gene variants with distinct clinical phenotypes and outcomes in juvenile-onset SLE. Rheumatology (Oxford). Published 9 May 2022. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →