Lupus & antiphospholipid syndrome
Genetic burden of lupus increases the risk of transition from normal to preclinical autoimmune conditions via antinuclear antibody development
Authors' conclusion
Our findings illustrate that the genetic burden of SLE may lead to a crucial transition from normal to preclinical autoimmune conditions prior to the pathogenic stage by increasing the susceptibility to and levels of ANAs.
Study context
- Population
- Korean individuals: autoantibody-positive preclinical individuals, healthy controls and patients with systemic lupus erythematosus (SLE)
- Participants
- 349 / 33,596 / 2,057
- Comparison
- Preclinical autoimmune conditions vs healthy controls
- Preclinicaln = 349
- Healthy controlsn = 33,596reference
- SLEn = 2,057
- Outcome
- Association between SLE PRS and loss of tolerance to self-nuclear antigens (ANA at various titre thresholds) in the preclinical stage
Methodological detailsgenome-wide and pathway-specific polygenic risk scores, stratification analysis
- Genome-wide and pathway-specific polygenic risk scores
- Stratification analysis
Performance
As reported in the abstract
SLE PRS
- Significantly upward trend between ANA titres and PRS
- P = 1.12 × 10-3
Further findings
| Outcome | OR | P value |
|---|---|---|
| ANA development (dilution 1:80) in preclinical-stage individuals, by PRS vs age- and sex-matched SLE patient mean (stratification analysis)At a dilution factor of 1:80 · stratification analysis | 2.25 | P = 8.12 × 10-3 |
Trend between ANA titres and SLE PRS
- Significantly upward trend between ANA titres and PRS
- P = 1.12 × 10-3
Pathway-specific PRS in ANA-positive preclinical individuals
- Significant enrichment of SLE-risk effects in nine pathways (e.g. reactive oxygen species production, T cell receptor, B cell receptor, cytokine signalling)
- Padjusted < 0.05
Original publication
Genetic burden of lupus increases the risk of transition from normal to preclinical autoimmune conditions via antinuclear antibody development. Ann Rheum Dis. Published 31 January 2025. doi:10.
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