Pulmonary arterial hypertension susceptibility and mortality among patients with systemic sclerosis with the DNASE1L3 rs35677470 (Arg206Cys) variant - PubMed
4 hours ago
- #Pulmonary Arterial Hypertension
- #Systemic Sclerosis
- #Genetic Variant
- A loss-of-function variant in DNASE1L3 (Arg206Cys, rs35677470) increases mortality risk in systemic sclerosis (SSc) patients (HR: 1.16, 95% CI: 1.02-1.32), adjusted for age of onset and sex.
- The same DNASE1L3 variant is significantly associated with higher precapillary pulmonary hypertension (PH) risk in SSc patients (HR: 1.69, 95% CI: 1.31-2.19), independent of interstitial lung disease (ILD).
- Most precapillary PH cases lacked ILD, indicating pulmonary arterial hypertension (PAH), suggesting DNASE1L3 dysfunction may explain SSc patients' susceptibility to PAH.