Pulmonary hypertension risk in systemic sclerosis linked to a DNASE1L3 genetic variant
Official title: Pulmonary arterial hypertension susceptibility in systemic sclerosis patients with the DNASE1L3 R206C variant
Funded at University of Texas Hlth Sci Ctr Houston · NIH-11289756 · Data updated 2026-11-12
A small study is looking at how a specific genetic change in DNASE1L3 might raise the risk of lung blood-vessel problems in people with systemic sclerosis.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Texas Hlth Sci Ctr Houston NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project start | July 1, 2026 |
| Project end | June 30, 2028 |
| Funding year | 2026 |
| Award (this year) | $156,000 |
| NIH project number | 1R03AR086931-01 |
| Project ID | NIH-11289756 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with systemic sclerosis who carry the DNASE1L3 R206C variant or related genetic profiles.
✕Less likely to help
People without systemic sclerosis or without the DNASE1L3 R206C variant may not benefit from this study.
What this research studies
Systemic sclerosis can cause the immune system to attack multiple organs and leads to serious health problems, including high blood pressure in the lungs. This project focuses on a DNASE1L3 R206C genetic variant that may impair how the body cleans up self-DNA from dying cells, possibly fueling harmful immune activity. Researchers will use mice with the DNASE1L3 deficiency and compare them to normal mice to see who develops pulmonary arteriopathy and pulmonary arterial hypertension, both at baseline and after exposure to a disease-mimicking trigger. The study aims to connect this genetic change to lung vascular disease in the context of systemic sclerosis.
Why it matters
Potential benefit: If successful, this work could identify a genetic factor that contributes to PAH risk in SSc, guiding future therapies or risk stratification.
How similar studies have gone: Previous work shows DNASE1L3 loss-of-function relates to autoimmunity; translating this to PAH risk is a logical progression with mixed but hopeful prior signals.
Where this research is happening
-
University of Texas Hlth Sci Ctr Houston
Houston, United States Active
Researchers
- Principal investigator: Skaug, Brian — University of Texas Hlth Sci Ctr Houston
- Study coordinator: Skaug, Brian
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About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.