PNPLA3 gene and fatty liver disease risk and protection
Official title: PNPLA3 in Susceptibility and Resistance to Fatty Liver Disease
Funded at Ut Southwestern Medical Center · NIH-11386433 · Data updated 2026-11-12
A doctor-scientist team is studying why some people develop fatty liver disease and others don’t, focusing on a gene variant called PNPLA3 and how it affects people of different ancestries.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ut Southwestern Medical Center NIH-funded |
| Lab location | 1 site (Dallas, United States) |
| Project start | August 1, 2011 |
| Project end | July 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $575,584 |
| NIH project number | 5R01DK090066-16 |
| Project ID | NIH-11386433 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with or at risk for alcoholic or nonalcoholic fatty liver disease, especially those of African descent or varied ancestry.
✕Less likely to help
People without fatty liver disease or those not carrying relevant PNPLA3 variants may see limited direct benefit.
What this research studies
This project looks at how metabolism and genetics contribute to fatty liver disease and why ancestry and body fat influence who gets it. Researchers have used human data from diverse populations and mouse studies to identify PNPLA3 variants that increase or decrease liver fat content. They are investigating how these genetic differences drive disease pathways and whether targeted therapies could counteract the harmful effects of PNPLA3(148M). The work combines human genetics with animal models to understand disease mechanisms and potential interventions, with a long-term aim of translating findings to people who are at risk.
Why it matters
Potential benefit: Understanding PNPLA3-related risks could lead to personalized strategies to prevent or treat fatty liver disease.
How similar studies have gone: Past work has identified PNPLA3 variants as major contributors to liver fat differences and shown proof-of-concept therapy in mice.
Where this research is happening
-
Ut Southwestern Medical Center
Dallas, United States Active
Researchers
- Principal investigator: Hobbs, Helen Haskell — Ut Southwestern Medical Center
- Study coordinator: Hobbs, Helen Haskell
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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.