Systemic sclerosis & Raynaud's
Cross‐Phenotype Genome‐Wide Association Study on the Shared Genetic Susceptibility to Systemic Sclerosis and Primary Biliary Cholangitis
Authors' conclusion
Our study supports a strong shared genetic susceptibility between SSc and PBC.
Study context
- Population
- Patients with systemic sclerosis (SSc) and patients with primary biliary cholangitis (PBC)
- Outcome
- Shared genetic susceptibility between SSc and PBC and candidate causal genes
Methodological detailsBayesian colocalization analysis, fine-mapping, tissue and pathway enrichment analyses, phenome-wide association studies
- Bayesian colocalization analysis
- Fine-mapping
- Tissue and pathway enrichment analyses
- Phenome-wide association studies
Pooled result
As reported in the abstract
Global genetic correlation between SSc and PBC
0.84
P = 1.7 × 10-6
Non-HLA loci reaching genome-wide significance (P < 5 × 10-8) in cross-phenotype genome-wide association study (GWAS) meta-analysis
44
Loci with evidence of shared causal variants between SSc and PBC
9
Novel loci among loci with shared causal variants
5
Original publication
Cross‐Phenotype Genome‐Wide Association Study on the Shared Genetic Susceptibility to Systemic Sclerosis and Primary Biliary Cholangitis. Arthritis Rheumatol. Published 27 February 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →