How a specific genetic variation affects blood vessel function in pulmonary arterial hypertension.
ACTN4 Binding to Functional SNP rs9277336 Controls the Genome Architecture and Endothelial Pathophenotypes in Pulmonary Arterial
This study is looking at how a specific gene variation might affect a protein that helps control blood vessel function in people with pulmonary arterial hypertension (PAH), with the hope that understanding this could lead to better treatments tailored to individual patients.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pittsburgh at Pittsburgh NIH-funded |
| Lab location | 1 site (Pittsburgh, United States) |
| Project ID | NIH-10938016 on NIH RePORTER |
What this research studies
This research investigates the role of a specific genetic variation (SNP rs9277336) in pulmonary arterial hypertension (PAH), a condition that causes high blood pressure in the lungs. The study aims to understand how this genetic variation influences the binding of a protein called ACTN4, which is crucial for regulating genes involved in blood vessel function. By examining how this genetic factor affects endothelial cells, the research seeks to uncover mechanisms that contribute to the severity of PAH. Patients may benefit from insights that could lead to targeted therapies based on their genetic profiles.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with pulmonary arterial hypertension, particularly those with specific genetic variations related to the ACTN4 protein.
Not a fit: Patients without pulmonary arterial hypertension or those whose condition is unrelated to the genetic factors being studied may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to personalized treatment strategies for patients with pulmonary arterial hypertension based on their genetic makeup.
How similar studies have performed: Previous research has shown promising results in understanding genetic factors in pulmonary arterial hypertension, indicating that this approach could yield valuable insights.
Where this research is happening
Pittsburgh, United States
- University of Pittsburgh at Pittsburgh — Pittsburgh, United States (Active)
Researchers
- Principal investigator: Kirillova, Anna — University of Pittsburgh at Pittsburgh
- Study coordinator: Kirillova, Anna
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 below.