Understanding genetic causes of high cholesterol across diverse populations
Whole genome sequences in ethnically diverse individuals to comprehensively characterize the genetic mechanisms of dyslipidemias
This project looks at whole-genome DNA from people of many ethnic backgrounds to find genetic changes that influence blood lipid (cholesterol and triglyceride) levels.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts General Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11162401 on NIH RePORTER |
What this research studies
This project will sequence full genomes from roughly 600,000 people from diverse racial and ethnic backgrounds and link those genomes to blood lipid measurements. Researchers will use new bioinformatics and annotation-driven methods to find both small genetic variants and larger structural variants that affect cholesterol and triglyceride levels. They will develop tools to interpret rare noncoding changes and combine monogenic and polygenic models to better explain inherited risk for abnormal lipids. Much of the analysis will use large cohorts such as the All of Us Research Program and will integrate genetic findings with clinical frameworks.
Who could benefit from this research
Good fit: Adults of any age and ancestry with measured lipid (cholesterol or triglyceride) levels, or people willing to provide DNA and health data through participating cohorts, would be ideal candidates.
Not a fit: People whose lipid problems are driven purely by lifestyle without identifiable genetic contributors, or those seeking immediate changes in clinical care, may not receive direct benefit from this research.
Why it matters
Potential benefit: If successful, this work could improve prediction of inherited risk for high cholesterol and point to new drug targets to prevent heart disease.
How similar studies have performed: Previous genetic studies have identified important lipid genes like ANGPTL3, but this large-scale whole-genome and structural variant focus in diverse populations is relatively novel.
Where this research is happening
Boston, United States
- Massachusetts General Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Natarajan, Pradeep — Massachusetts General Hospital
- Study coordinator: Natarajan, Pradeep
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.