Lupus & antiphospholipid syndrome
Genetics of Childhood‐Onset Systemic Lupus Erythematosus
Authors' conclusion
We identified a significant locus for younger age at SLE diagnosis, intronic to CCDC113, among a large multiancestral cohort of children and adults with SLE. In the first GWAS of cSLE, we identified a TSBP1-AS1 locus and an HLA-DQA1 previously identified for aSLE.
Study context
- Population
- Patients with systemic lupus erythematosus (SLE) meeting ACR and/or SLICC classification criteria, with documented age at diagnosis; 88% female; multiancestral (39% European, 19% East Asian, 17% Admixed)1,489 patients with SLE
- Participants
- 346 vs 4,080
- Exposure
- Known SLE loci tested with age at SLE diagnosis; Genome-wide association studies (GWAS) of cSLE vs children and adolescents without SLE
- cSLEn = 346
- Controls without SLEn = 4,080reference
- Outcome
- Genetic variants for age at SLE diagnosis (log-transformed), known SLE loci (142 non-HLA, 166 HLA)
Methodological detailsmultiethnic arrays, multiancestral cohort, adjusted for sex and five principal components
- Multiethnic arrays
- Multiancestral cohort
- Adjusted for sex and five principal components
Main finding
As reported in the abstract
Age at SLE diagnosis, known SLE loci
- SLE-risk SNP intronic to CCDC113 (chromosome 16) associated with younger age at SLE diagnosis: β = −0.12, SE = 0.03
- P = 6.3 × 10-6
Observational data: associations, not effects.
Further findings
| Outcome | OR (95% CI) | P value | |
|---|---|---|---|
| GWAS of cSLEvs controls without SLE: chromosome 6 SNP rs9268469, intronic to TSBP1-AS1Genome-wide significance P < 5 × 10-8 | 2.04 (1.59–2.63) | P = 1.79 × 10-8 | |
| 0.20.5125Odds ratio (log scale) |
GWAS of cSLE vs controls without SLE: chromosome 6 SNP rs9268469, intronic to TSBP1-AS1
- HLA-DQA1 also identified
Original publication
Genetics of Childhood‐Onset Systemic Lupus Erythematosus. Arthritis Rheumatol. Published 21 September 2025. doi:10.
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