How genetic differences in pancreatic islet cells affect insulin release in type 2 diabetes
Dissecting cell type-specific genetic programming of islet (dys)function in type 2 diabetes
This project looks at how common DNA differences change activity of specific islet cell types and how that may affect insulin secretion in people with or at risk for type 2 diabetes.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Jackson Laboratory NIH-funded |
| Lab location | 1 site (Bar Harbor, United States) |
| Project ID | NIH-11235839 on NIH RePORTER |
What this research studies
Researchers will analyze pancreatic islet tissue from about 80 human donors using single-nucleus ATAC-seq to map chromatin accessibility in individual islet cell types (alpha, beta, delta). They will link diabetes-associated DNA variants to changes in these cell-type-specific regulatory elements using chromatin accessibility quantitative trait locus (caQTL) analysis. The team will test regulatory element activity with high-throughput reporter assays and use gene-editing experiments to connect variants to target genes and cell function. The work aims to reveal which variants and genes change islet cell behavior and could drive type 2 diabetes.
Who could benefit from this research
Good fit: Adults with type 2 diabetes or those at higher risk for diabetes are the patient groups most likely to be affected by this research, particularly if they can donate tissue samples or join future related studies.
Not a fit: People whose diabetes is due to causes unrelated to islet cell dysfunction (for example, autoimmune type 1 diabetes) or those not willing to donate samples may not directly benefit.
Why it matters
Potential benefit: If successful, this work could point to new cell-type-specific genes or regulatory elements to target with therapies that improve insulin secretion in type 2 diabetes.
How similar studies have performed: Similar genetics and single-cell chromatin studies have successfully linked some diabetes-associated variants to gene regulation in islets, though translating these findings into treatments remains early.
Where this research is happening
Bar Harbor, United States
- Jackson Laboratory — Bar Harbor, United States (Active)
Researchers
- Principal investigator: Stitzel, Michael Lee — Jackson Laboratory
- Study coordinator: Stitzel, Michael Lee
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.