How the BCOR gene may affect risk of dangerous blood clots
Official title: BCOR Regulation of Venous Thromboembolism
Funded at Johns Hopkins University · NIH-11146625 · Data updated 2026-11-12
Researchers are looking at how the BCOR gene controls a liver protein called Factor VII that can influence the risk of venous blood clots for people prone to VTE.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project start | August 1, 2024 |
| Project end | July 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $666,710 |
| NIH project number | 5R01HL174778-02 |
| Project ID | NIH-11146625 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with a personal or family history of venous thromboembolism or unexplained recurrent clots would be most relevant to this line of research.
✕Less likely to help
Patients whose clots are caused by short-term factors like surgery, injury, or temporary medication use are unlikely to see direct benefits from this genetic and epigenetic research in the near term.
What this research studies
This project combines human genetic data with laboratory experiments to understand why some people are more likely to get venous blood clots. Researchers will use genome-wide association data linked to VTE alongside experiments in liver cells and mouse models to see how BCOR changes production of the clotting protein Factor VII. They will study BCOR's effects through epigenetic regulators that turn genes on or off in liver cells. The goal is to trace the pathway from DNA differences to changes in clotting that could raise VTE risk.
Why it matters
Potential benefit: If successful, this work could point to new, more specific ways to prevent or treat venous blood clots by targeting the pathways that control Factor VII.
How similar studies have gone: Genetic studies have already linked the BCOR region to VTE risk and early lab work in cells and mice supports BCOR's role, but translating these findings into treatments remains largely novel.
Where this research is happening
-
Johns Hopkins University
Baltimore, United States Active
Researchers
- Principal investigator: Lowenstein, Charles J — Johns Hopkins University
- Study coordinator: Lowenstein, Charles J
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BCOR's role in blood clot risk and liver genetics
A Johns Hopkins-led study is exploring how a human gene, BCOR, may control liver-produced clotting factors to influence venous blood clots.
-
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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.