How a chromosome 9 gene region may influence diabetes, heart disease, and cancer
Comprehensive functional genomic analysis of the multi-disease associated CDKN2A/B locus
Scientists will map how a gene region called CDKN2A/B on chromosome 9 affects risk for age-related conditions like Type 2 diabetes, cardiovascular disease, and some cancers.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pittsburgh at Pittsburgh NIH-funded |
| Lab location | 1 site (Pittsburgh, United States) |
| Project ID | NIH-11115719 on NIH RePORTER |
What this research studies
If you have Type 2 diabetes, heart disease, or age-related cancer risk, this project is working to explain why those conditions share a common genetic signal at CDKN2A/B. The team will test about 193 noncoding DNA variants across a 200 kb region using high-throughput lab tools (including Reel-seq and FREP/SDCP-MS) to find which sequences change gene activity. They will examine effects on the nearby genes (p16INK4a, p14ARF, p15INK4b, and ANRIL) and on cellular aging processes using human-derived cells and molecular assays. The aim is to connect specific genetic changes to biological mechanisms that could drive multiple age-related diseases.
Who could benefit from this research
Good fit: Adults with or at risk for Type 2 diabetes, cardiovascular disease, or certain age-related cancers — or people willing to contribute genetic samples — would be most related to this research.
Not a fit: People with conditions unrelated to age-related diseases or whose health issues are not linked to the CDKN2A/B region are unlikely to see direct benefit.
Why it matters
Potential benefit: If successful, this work could reveal biological targets and risk markers that help prevent, predict, or guide new treatments for several age-related illnesses.
How similar studies have performed: Genome-wide studies have repeatedly linked the 9p21.3/CDKN2A/B region to multiple diseases, but functional follow-up is limited and this project applies newer high-throughput methods to fill that gap.
Where this research is happening
Pittsburgh, United States
- University of Pittsburgh at Pittsburgh — Pittsburgh, United States (Active)
Researchers
- Principal investigator: Li, Gang — University of Pittsburgh at Pittsburgh
- Study coordinator: Li, Gang
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.