Systemic sclerosis & Raynaud's
Assessing the MUC5B promoter variant in a large cohort of systemic sclerosis-associated interstitial lung disease
Authors' conclusion
Despite analysing the largest and most statistically powered SSc-ILD cohort to date, we found no evidence of association between the MUC5B promoter variant rs35705950 and its surrounding SNPs with SSc-ILD.
Study context
- Population
- European ancestry cohorts of SSc-ILD, SSc without ILD and controls10 European ancestry cohorts
- Participants
- 2,363 / 3,526 / 15,076
- Comparison
- MUC5B promoter variant rs35705950 in SSc-ILD vs SSc without ILD and vs controls
- SSc-ILDn = 2,363
- SSc without ILDn = 3,526reference
- Controlsn = 15,076reference
- Outcome
- Association of rs35705950 (and nearby single nucleotide polymorphisms (SNPs)) with SSc-ILD
Methodological detailsmeta-analysis of case-control cohorts, genomic imputation, meta-analysis of 10 European ancestry cohorts
- Meta-analysis of case-control cohorts
- Genomic imputation
- Meta-analysis of 10 European ancestry cohorts
Pooled result
As reported in the abstract
Association of rs35705950 with SSc-ILD
Odds ratio (95% CI)P value
SSc-ILDvs SSc without ILD
1.05(0.87–1.27)
p value: 0.588SSc-ILDvs Controls
1.16(0.99–1.36)
p value: 0.061Further pooled results
Additional variants within 100 Kb of rs35705950
- None of the additional 903 variants reached statistical significance
Original publication
Assessing the MUC5B promoter variant in a large cohort of systemic sclerosis-associated interstitial lung disease. RMD Open. Published 12 August 2025. doi:10.
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