Clonal blood-cell mutations and sudden cardiac death risk
Clonal Hematopoeisis of Indeterminate Potential and Risk of Autopsy-defined Sudden Cardiac Death
This project looks for a connection between clonal blood-cell mutations (CHIP) and sudden cardiac death in adults.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project ID | NIH-11231246 on NIH RePORTER |
What this research studies
From a patient's perspective, researchers are linking genetic tests for common CHIP mutations (like TET2, DNMT3A, ASXL1) to a uniquely detailed autopsy series of sudden cardiac deaths collected at UCSF. They use blood or tissue samples and DNA sequencing to see whether people with CHIP mutations more often have autopsy-confirmed heart-related sudden death rather than non-cardiac causes. Because the cohort is defined by autopsy, the team can more accurately separate true arrhythmic cardiac deaths from other types of sudden death. The work combines genetic data with clinical and autopsy findings to clarify whether CHIP raises the risk of fatal arrhythmias.
Who could benefit from this research
Good fit: Ideal candidates are adults (age 21+) who can provide blood or tissue samples or are part of an autopsy-defined sudden cardiac death case series.
Not a fit: People without CHIP mutations or whose deaths are shown to be non-cardiac would be less likely to benefit directly from these findings in the near term.
Why it matters
Potential benefit: If a link is confirmed, this could help identify people at higher risk for sudden cardiac death and guide monitoring or prevention strategies.
How similar studies have performed: Large genomic studies have previously tied CHIP to higher cardiovascular risk, but applying CHIP analysis specifically to autopsy-confirmed sudden cardiac death is relatively new.
Where this research is happening
San Francisco, United States
- University of California, San Francisco — San Francisco, United States (Active)
Researchers
- Principal investigator: Tseng, Zian H — University of California, San Francisco
- Study coordinator: Tseng, Zian H
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.