Lupus & antiphospholipid syndrome
Distinct genetic risk loci between biopsy-proven renal and non-renal lupus: a 10-year longitudinal cohort
Authors' conclusion
Different subphenotypes of SLE are predisposed by distinct genetic risk loci, which can only be identified in clearly subphenotyped cohorts with sufficient longitudinal data.
Study context
- Population
- Systemic lupus erythematosus (SLE) patients with longitudinal clinical data for at least 10 years (or died during the study period), eight tertiary referral centres
- Participants
- 1,462 patients
- Exposure
- Biopsy-proven lupus nephritis (LN) vs never developed LN; each vs control
- LNn = 824
- NLNn = 638reference
- Outcome
- Genetic basis for LN: PRS and genome-wide significant variants
Methodological detailsgenetic association study, multicentre (eight tertiary referral centres), biopsy-proven LN, ≥10 years longitudinal follow-up, polygenic risk scores (230 SLE-associated SNPs), genome-wide association analyses, heterogeneity tests
- Genetic association study
- Multicentre (eight tertiary referral centres)
- Biopsy-proven LN
- ≥10 years longitudinal follow-up
- Polygenic risk scores (230 SLE-associated SNPs)
- Genome-wide association analyses
- Heterogeneity tests
Main finding
As reported in the abstract
Genetic risk loci, LN vs NLN
- Polygenic risk scores (PRS) significantly higher in the LN cohort
- Genome-wide significant variants in HLA, TNFAIP3, BLK and STAT4 loci specifically for LN patients; STAT4 also significant for NLN patients
- Direct LN vs NLN associations: no statistically significant variants
- Heterogeneity tests revealed other loci, including ELF1, OX40, DUSP22 and TPCN2
Observational data: associations, not effects.
Original publication
Distinct genetic risk loci between biopsy-proven renal and non-renal lupus: a 10-year longitudinal cohort. Rheumatology (Oxford). Published 20 January 2025. doi:10.
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