Lupus & antiphospholipid syndrome
Genetic relationships between systemic lupus erythematosus and a positive antinuclear antibody test in the absence of autoimmune disease
Authors' conclusion
ANA+ occurring in the absence of autoimmune disease has a genetic association with the HLA region, but overall heritability is low. In addition, few SLE-associated SNPs were associated with ANA+, and the PRS for SLE was not associated with ANA+, indicating limited genetic overlap.
Study context
- Population
- Individuals of European ancestry without an autoimmune disease who had ANA tested as part of clinical care, from DNA biobanks (BioVU and eMERGE)European ancestry
- Participants
- 7,287 individuals
- Comparison
- ANA+ vs ANA- individuals without autoimmune disease; Polygenic risk score (PRS) compared with SLE patients and general controls
- ANA+n = 2,169
- ANA-n = 5,118reference
- Outcome
- Genetic factors associated with ANA+ in the absence of autoimmune disease
Methodological detailsGenome-wide association study (GWAS) meta-analysis, DNA biobanks linked to de-identified electronic medical records (BioVU and Electronic Medical Records and Genomics), single nucleotide polymorphism (SNP) heritability, polygenic risk score
- GWAS meta-analysis
- DNA biobanks linked to de-identified electronic medical records (BioVU and Electronic Medical Records and Genomics)
- SNP heritability
- Polygenic risk score
Main finding
As reported in the abstract
Genetic association with ANA+
- SNP upstream of TSBP1 in the HLA locus (rs1967688) associated with ANA+
- p=4.84×10-8
- SNP heritability for ANA+ low (h2 SNP)
- 0.04
Observational data: associations, not effects.
Further findings
- PRS for SLE — PRS for SLE did not differ among ANA+, ANA- and general control groups · SLE vs ANA+ · significantly higher in SLE
- P = 0.17 · P < 2.2×10-16
Original publication
Genetic relationships between systemic lupus erythematosus and a positive antinuclear antibody test in the absence of autoimmune disease. Lupus Sci Med. Published 12 June 2025. doi:10.
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