Lupus & antiphospholipid syndrome
Identified genetic locus for longitudinal disease activity in adults with systemic lupus erythematosus
Authors' conclusion
We identified a genome-wide significant locus intronic to AGAP1 for SLE disease activity burden as measured by AMSG.
Study context
- Population
- Adults with systemic lupus erytematosus (SLE) (ACR and/or SLICC criteria) from a tertiary care lupus clinic, genotyped, with ≥3 SLEDAI-2K measures88% female
- Participants
- 538 adults
- Outcome
- Genetic risk loci for disease activity burden over time: adjusted mean SLEDAI-2K and GC (AMSG) score (genome-wide significance P < 5 × 10-8)
Methodological detailsmeta-analysis of array-stratified genome-wide association study (GWAS), adjusted for sex and five PCs, single tertiary care lupus clinic, colocalization analyses with eQTL, Median age at diagnosis 30.7 years (IQR 23.3, 41.7); mean follow-up 4.5 years (SD 0.95); 75% first clinic visit within 1 year of diagnosis
- Meta-analysis of array-stratified GWAS
- Adjusted for sex and five PCs
- Single tertiary care lupus clinic
- Colocalization analyses with eQTL
- Median age at diagnosis 30.7 years (IQR 23.3, 41.7); mean follow-up 4.5 years (SD 0.95); 75% first clinic visit within 1 year of diagnosis
Pooled result
As reported in the abstract
Genome-wide significant SNP for AMSG: rs4561613, chromosome 2, intronic to AGAP1
- Beta
- 0.34
- SE
- 0.06
- P
- P = 4.16 × 10-9
Further pooled results
Median AMSG (adjusted mean SLEDAI-2K and GC score) in the cohort
- Median AMSG 5.5 (Q25, Q75 = 3.2, 8.8)
Interferon gene scores and AMSG
- Interferon gene scores significantly associated with AMSG (Beta = 0.02, SE = 8.70 × 10-3, P = 0.006)
- Subset of patients
Colocalization with eQTL for top single nucleotide polymorphism (SNP)
- No significant difference in gene expression for the top SNP
Original publication
Identified genetic locus for longitudinal disease activity in adults with systemic lupus erythematosus. Rheumatology (Oxford). Published 25 February 2025. doi:10.
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