Multiple new osteoarthritis genes and genetic pathways have been uncovered from a study that analyzed data from nearly two million people in diverse populations worldwide. The team uncovered 962 genetic variants associated with the disease and spotlighted 69 key genes whose protein products are already targeted by 473 approved drugs. There are currently no disease-modifying drugs for osteoarthritis, which is typically treated with pain medication.
“This study takes a leap forward in offering tailored therapies for osteoarthritis patients, many of whom have long awaited disease-modifying options,” said Dino Samartzis, DSc, co-author, professor, and director of the International Spine Research and Innovation Initiative of the Department of Orthopedic Surgery at Rush.
The work was conducted by an international team led by Helmholtz Munich in collaboration with Rush University Medical Center and 125 top academic institutions worldwide. The authors believe this is the largest genetic investigation into osteoarthritis and the largest musculoskeletal study ever conducted.
The study was recently published in Nature. The lead author is Konstantinos Hatzikotoulas, PhD, a staff scientist at the Institute of Translational Genomics, German Research Center for Environmental Health, Neuherberg.
Osteoarthritis is caused by the gradual breakdown of cartilage in the joints and is a leading cause of pain, reduced mobility, and disability. It is distinct from rheumatoid arthritis, which is an autoimmune disorder. The disease is projected to affect one billion people by 2050 and costs the United States alone nearly $486 billion annually.
“As orthopedic specialists, we see firsthand how osteoarthritis affects quality of life,” said Brian Cole, MD, professor of orthopedics at Rush. “This study takes us closer to developing targeted biologics that not only alleviate symptoms but also slow disease progression and, ideally, restore joint health.”
“With 10% of our genetic targets already linked to existing drugs, we’re poised to accelerate the development of transformative treatments for osteoarthritis,” said Eleftheria Zeggini, PhD, co-author and director of the Institute of Translational Genomics at Helmholtz Munich and professor of translational genomics at the Technical University of Munich. “This is precision medicine at work—offering new hope to millions.”
Since osteoarthritis is typically managed with pain relievers and mobility aids, this study not only helps redefine the genetic understanding of the disease but also provides a path toward repurposing safe, approved drugs more quickly.
The team stresses the need for more genetically diverse studies and functional genomics data from global populations to further refine their findings. By integrating genetics with tissue-level molecular insights, they say, the pathway to new, effective, and personalized treatments for osteoarthritis becomes increasingly attainable.
“This is one of the finest examples of impactful team science,” Samartzis said. “Researchers and clinicians from across the globe united with a singular goal—to change the trajectory of osteoarthritis care for generations to come.”
