Rare and common single nucleotide variants in childhood-onset systemic lupus erythematosus
Authors' conclusion
RD SNVs were observed in a small proportion of cSLE and carriers of these RD SNVs had a PRS similar to healthy individuals, suggesting the importance of rare coding heterozygous variants in driving disease risk in a subset of children with SLE.
Study context
- Population
- Patients with SLE and healthy individuals958 SLE, 1026 controls
- Comparison
- Childhood-onset SLE vs adult-onset SLE vs healthy controls
- cSLEn = 116
- Controlsn = 1,026reference
- Outcome
- Occurrence of rare deleterious variants in monogenic SLE-associated genes and their relation to SLE PRS
Methodological detailstargeted sequencing of 1832 gene regions, polygenic risk score analysis
- Targeted sequencing of 1832 gene regions
- Polygenic risk score analysis
Main finding
As reported in the abstract
Carriers of rare deleterious alleles
cSLE
Six per cent
aSLE
4.6%
Controls
3.2%
Observational data: associations, not effects.
Further findings
SLE polygenic risk score (PRS) in cSLE carriers of RD single nucleotide variants (SNVs)
- cSLE carriers of these variants had a similar average PRS as controls
Original publication
Rare and common single nucleotide variants in childhood-onset systemic lupus erythematosus. Lupus Sci Med. Published 11 February 2025. doi:10.
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