Genome-wide association study for loci associated with positive antinuclear antibodies
Main finding · Strongest HLA association: HLA-DQB1:0201Result — go to the resultOdds ratio 1.3 95 % CI 1.2–1.5Authors' conclusion
HLA-DQB1:0201, HLA-DRB1:03, HLA-B, and HLA-C were strong genetic factors for ANA+ in these European ancestry individuals.
Study context
- Population
- Mass General Brigham Biobank patients with HEp-2 immunofluorescence antinuclear antibodies (ANA) results (1989–2022) and genetically predicted European ancestry
- Participants
- 7,035 / 4,279 / 5,840
- Comparison
- ANA+ vs ANA−
- ANA+ ≥1:40n = 7,035
- ANA+ ≥1:80n = 4,279
- ANA-n = 5,840reference
- Outcome
- Genetic loci associated with ANA positivity
Methodological detailsbiobank-based, European ancestry, adjusted for age, sex and 4 genetic principal components, SNP2HLA imputation, lability method heritability
- Biobank-based
- European ancestry
- Adjusted for age, sex and 4 genetic principal components
- SNP2HLA imputation
- Lability method heritability
Main finding
Strongest HLA association: HLA-DQB1:0201
Odds ratio
1.3
95 % CI 1.2–1.5
p 9.1 × 10-14
ANA+ ≥1:80vs ANA-
OR 1.3 (95 % CI 1.2–1.5); p 9.1 × 10-14
As reported in the abstract
Further findings
| Outcome | OR (95 % CI) | P value | |
|---|---|---|---|
| Strongest non-HLA association: rs34748780 (chromosome 7) near IRF5/TNPO3ANA+ ≥1:80vs ANA- | 1.2 (1.1–1.4) | p 1.6 × 10-8 | |
| 0.512Odds ratio (log scale) |
| Outcome | ANA+ ≥1:40 | ANA+ ≥1:80 |
|---|---|---|
| ANA+ heritability (lability method) | 12 % (SE 0.03) | 19 % (SE 0.03) |
| p | p 1.0 × 10-8 | p 1.9 × 10-12 |
Original publication
Genome-wide association study for loci associated with positive antinuclear antibodies. Semin Arthritis Rheum. Published 16 July 2025. doi:10.
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