Systemic sclerosis & Raynaud's
Sex-specific autosomal susceptibility loci in systemic sclerosis: a genome-wide association study
Authors' conclusion
We report the first evidence of sex-specific genetic architecture in systemic sclerosis.
Study context
- Population
- Adults (≥18 years) with SSc and healthy controls from a previous genome-wide association studies (GWAS) and newly recruited participants from an international multicentre collaboration (data cutoff June 1, 2024)after quality control filtering
- Participants
- 10,653 vs 18,043
- Comparison
- Patients with SSc vs healthy controls, sex-stratified
- SScn = 10,653
- Controlsn = 18,043reference
- Outcome
- Autosomal sex-specific genetic loci associated with SSc
Methodological detailssex-stratified autosomal meta-analysis, international multicentre collaboration, chromosomal definition of sex, People with lived experience of SSc were not involved in study design or conduct
- Sex-stratified autosomal meta-analysis
- International multicentre collaboration
- Chromosomal definition of sex
- People with lived experience of SSc were not involved in study design or conduct
Pooled result
As reported in the abstract
Sex-specific loci associated with SSc
SSc vs ControlsOdds ratio (95% CI)P value
Novel male-specific locus BCL11A
1.32(1.20–1.45)
P = 8.39 × 10-9Novel female-specific locus IRF4
0.78(0.71–0.85)
P = 2.36 × 10-8Novel female-specific locus RPL3-PDGFB
1.19(1.12–1.26)
P = 3.18 × 10-8- Sex-specific loci identified
- 8
- Previously known loci now characterised as female-specific
- 5
Further pooled results
Functional analyses: candidate genes
- Candidate genes implicated
- 39
- Genes with sex-differential expression in SSc (IL12RB2, ARHGAP31, UBL7, CSK, MPI)
- 5
Drug repurposing analysis
- Approved drugs identified as potential repurposing candidates (fostamatinib, dasatinib)
- 2
Original publication
Sex-specific autosomal susceptibility loci in systemic sclerosis: a genome-wide association study. Lancet Rheumatol. Published 15 April 2026. doi:10.
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