Lupus & antiphospholipid syndrome
A Genome‐Wide Association Study Suggests New Susceptibility Loci for Primary Antiphospholipid Syndrome
Authors' conclusion
This study represents a comprehensive large-scale genetic analysis for PAPS and provides new insights into the genetic basis and pathophysiology of this rare disease.
Study context
- Population
- Individuals of European ancestry, including those with primary antiphospholipid syndrome (PAPS)482 affected individuals
- Participants
- 5,485 participants
- Outcome
- Genetic susceptibility loci associated with PAPS
Methodological detailsmeta-analysis of ≈7 million variants, European ancestry
- Meta-analysis of ≈7 million variants
- European ancestry
Pooled result
As reported in the abstract
Genetic susceptibility loci for PAPS
- Additional suggestive genetic susceptibility loci
- 34
Further pooled results
Functional analyses
- Immune-related pathways highlighted in PAPS-associated loci
Genetic similarity with other immune-mediated diseases
- Close genetic relatedness to neuromyelitis optica, SSc and Sjögren syndrome, suggesting co-localized causal variations close to STAT1-STAT4, TNPO3 and BLK
Original publication
A Genome‐Wide Association Study Suggests New Susceptibility Loci for Primary Antiphospholipid Syndrome. Arthritis Rheumatol. Published 11 August 2024. doi:10.
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