Genetic links between severe obstructive sleep apnea and upper airway anatomy
Genetics of Extreme Phenotypes of OSA and Associated Upper Airway Anatomy
Using head and neck CT and MRI scans plus genetic information, scientists aim to identify genes that change airway shape and increase risk for severe obstructive sleep apnea in adults.
Quick facts
| Grant type | P01 program project |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11184378 on NIH RePORTER |
What this research studies
The team applies machine-learning tools to routine MRI and CT images of the head and neck to measure airway and craniofacial features such as tongue fat and jaw size. They link those imaging-derived anatomical traits to genetic data from biobanks and perform genome-wide searches for DNA variants connected to those traits. The project will build polygenic risk scores that include anatomy-related genetic predictors and explore how genetics and anatomy together produce extreme forms of OSA. If you have OSA and previous clinical imaging or genetic data, your records could help the researchers find genetic causes and improve risk prediction.
Who could benefit from this research
Good fit: Ideal candidates are adults with diagnosed obstructive sleep apnea—especially those with severe or unusually extreme OSA—who can share past CT/MR images and genetic or biobank data.
Not a fit: People without OSA, those with primarily central sleep apnea, or individuals who cannot provide imaging or genetic data may not directly benefit from this project.
Why it matters
Potential benefit: If successful, this work could improve prediction of who will develop severe OSA and point to anatomy-based, more personalized prevention or treatment approaches.
How similar studies have performed: Previous genetic and imaging studies have found links between anatomy and OSA risk, but combining large-scale automated imaging, machine learning, and GWAS to predict extreme OSA is a relatively new approach.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Schwab, Richard J. — University of Pennsylvania
- Study coordinator: Schwab, Richard J.
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.