Systemic sclerosis & Raynaud's
Phenotype-specific associations of mosaic chromosomal alterations in systemic sclerosis
Authors' conclusion
Loss and mLOX were significantly and differentially associated with SSc and its subtypes, underscoring potential phenotype-specific contributions of mCAs.
Study context
- Population
- Subjects from 2 independent datasets; Mosaic chromosomal alterations (mCAs) (loss, LOH, gain, mLOX) detected from peripheral blood samples2 independent datasets
- Comparison
- Systemic sclerosis (SSc) vs controls
- Outcome
- Associations between mCAs (loss, LOH, gain, mLOX) and SSc and its clinical subtypes
Methodological details2 independent datasets, meta-analysis of cohort-level logistic regression, stratified analyses
- 2 independent datasets
- Meta-analysis of cohort-level logistic regression
- Stratified analyses
Main finding
As reported in the abstract
- Trend of increased loss in SSc, especially in old age
- P = .0063
Observational data: associations, not effects.
Further findings
| Outcome | OR | P value |
|---|---|---|
| Loss, lcSSc (subtype)lcSSc vs Controls | 2.22 | P = 0.019 |
| Loss, SSc with vascular complications (digital ulcers, pulmonary hypertension or renal crisis)SSc with vascular complications vs Controls | 3.30 | P = 0.0054 |
mLOX, limited cutaneous systemic sclerosis (lcSSc) vs dcSSc and ACA-SSc vs ATA-SSc
- mLOX significantly associated with lcSSc and ACA-SSc even compared with dcSSc and ATA-SSc, respectively; consistent in each of the 2 datasets
Loss by age at onset
- Majority of the associations of Loss mainly driven by SSc with late age at onset
Original publication
Phenotype-specific associations of mosaic chromosomal alterations in systemic sclerosis. Ann Rheum Dis. Published 9 July 2026. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →