Systemic sclerosis & Raynaud's
Novel pleiotropic loci link vascular and immune pathways in systemic sclerosis and primary Raynaud’s phenomenon
Authors' conclusion
This study reveals a genetic link between primary RP and SSc, identifying five novel pleiotropic loci and supporting the potential of genetic profiling for early risk assessment and personalised monitoring strategies.
Study context
- Population
- Genome-wide association study (GWAS) summary statistics for primary raynaud's phenomenon (RP) (4,986 cases and 850,981 controls) and SSc (10,654 cases and 18,043 controls)∼8.6M SNPs
- Outcome
- Variants associated with both primary RP and SSc (shared genetic architecture)
Methodological detailscross-trait GWAS meta-analysis, cross-trait meta-analysis of GWAS summary statistics, functional annotation, polygenic risk score
- Cross-trait GWAS meta-analysis
- Cross-trait meta-analysis of GWAS summary statistics
- Functional annotation
- Polygenic risk score
Pooled result
As reported in the abstract
- Beyond the well-known HLA associations, five additional pleiotropic loci identified
- 5
Further pooled results
High genetic risk of developing SSc among primary RP individuals (polygenic risk score (PRS) 75th percentile)
| Relative risk (95% CI) | P value | ||
|---|---|---|---|
| 75th percentile | 1.29 (1.02–1.62) | P = 3.58 × 10-2 | |
| 0.512Relative risk (log scale) |
PRS discrimination for SSc
- Modest discrimination, AUC
- 0.57
Original publication
Novel pleiotropic loci link vascular and immune pathways in systemic sclerosis and primary Raynaud’s phenomenon. Rheumatology (Oxford). Published 8 April 2026. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →