Lupus & antiphospholipid syndrome
Genetic Analysis of Asymptomatic Antinuclear Antibody Production
Authors' conclusion
ANA production is not associated with significant genetic risk and is primarily determined by environmental factors.
Study context
- Population
- Asymptomatic individuals from the All of Us Research Program with an antinuclear antibodies (ANA) test by immunofluorescence and no evidence of autoimmune disease, three populationsthree populations
- Participants
- 1,955 vs 3,634
- Comparison
- Asymptomatic ANA positive vs asymptomatic ANA negative individuals
- ANA POSITIVEn = 1,955
- ANA NEGATIVEn = 3,634reference
- Outcome
- Genetic association with asymptomatic ANA positivity (genome-wide)
Methodological detailsmultipopulation meta-analysis, imputation, ≈6 million single-nucleotide polymorphisms (SNPs)
- Multipopulation meta-analysis
- Imputation
- ≈6 million SNPs
Pooled result
As reported in the abstract
Asymptomatic ANA positivity, multipopulation GWAS meta-analysis (≈6 million SNPs)
Most significant association: variant upstream of HLA-DQB1 (rs17211748), P = 1.4 × 10-6, OR
0.82
95% CI 0.76–0.89
Heritability of asymptomatic ANA positivity
24.9%
Further pooled results
SNP-based heritability of asymptomatic ANA positivity
- Heritability estimate
- 24.9%
Cumulative genetic risk score for lupus
- No increased cumulative genetic risk for lupus in ANA positive vs ANA negative
Original publication
Genetic Analysis of Asymptomatic Antinuclear Antibody Production. Arthritis Rheumatol. Published 14 November 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →