Systemic sclerosis & Raynaud's
Pulmonary arterial hypertension susceptibility and mortality among patients with systemic sclerosis with the DNASE1L3 rs35677470 (Arg206Cys) variant
Pooled result · MortalityResult — go to the resultHazard ratio 1.16 95% CI 1.02–1.32Authors' conclusion
We report a previously unknown impact of DNASE1L3 polymorphism on PAH susceptibility in SSc.
Study context
- Population
- Patients with Systemic Sclerosis (SSc) in the UTHealth Houston, Royal Free Hospital and Johns Hopkins University cohortsmortality analysis
- Participants
- 2,366 patients
- Comparison
- SSc with vs without the DNASE1L3 R206C variant
- Outcome
- Mortality and pulmonary outcomes (precapillary PH time-to-event from SSc onset)
Methodological detailsthree cohorts (UTHealth Houston, Royal Free Hospital, Johns Hopkins University), Cox proportional hazards models
- Three cohorts (UTHealth Houston, Royal Free Hospital, Johns Hopkins University)
- Cox proportional hazards models
Pooled result
Mortality
Hazard ratio
1.16
95% CI 1.02–1.32
DNASE1L3 R206Cvs Without R206C
HR 1.16 (95% CI 1.02–1.32)
As reported in the abstract
Further pooled results
| Outcome | HR (95% CI) | |
|---|---|---|
| Precapillary PH riskAdjusted for age of SSc onset, sex and presence of ILD | 1.69 (1.31–2.19) | |
| 0.512Hazard ratio (log scale) |
- Precapillary pulmonary hypertension (PH) risk: n = 1170; 20.3% had precapillary PH
Precapillary PH risk
- The majority of patients with precapillary PH did not have interstitial lung disease (ILD) (WHO Group I, ie pulmonary arterial hypertension (PAH))
Original publication
Pulmonary arterial hypertension susceptibility and mortality among patients with systemic sclerosis with the DNASE1L3 rs35677470 (Arg206Cys) variant. Ann Rheum Dis. Published 5 June 2026. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →