Pulmonary arterial hypertension susceptibility and mortality among patients with systemic sclerosis with the DNASE1L3 rs35677470 (Arg206Cys) variant.
Ann Rheum DisJun 5, 2026 (epub)
Brian Skaug, Stefano Rodolfi, Christopher P Denton et al.
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In 30 seconds
This meta-analysis examined the impact of the DNASE1L3 R206C variant on mortality and pulmonary outcomes in systemic sclerosis (SSc) patients. Among 2,366 patients, the variant was linked to a 16% increased mortality risk (HR: 1.16) and a 69% higher risk of precapillary pulmonary hypertension (HR: 1.69), highlighting its role in SSc-related complications.
Key findings
- DNASE1L3 R206C variant associated with 16% increased mortality risk (HR: 1.16).
- Variant linked to 69% higher risk of precapillary pulmonary hypertension (HR: 1.69).
- 46.6% of the studied patients were deceased.
- 20.3% of patients had precapillary pulmonary hypertension.
Why it matters
Understanding genetic factors like the DNASE1L3 R206C variant can help clinicians identify patients with systemic sclerosis at higher risk for mortality and pulmonary hypertension, potentially guiding monitoring and management strategies.