Researchers at the UNC Thurston Arthritis Research Center have pinpointed 13 “high probability risk genes” that directly contribute to osteoarthritis, a condition affecting over 32 million people in the U.S. The findings, published in Cell Genomics, mark a significant step toward developing targeted therapies to prevent disease progression.
Douglas Phanstiel, PhD
The challenge of osteoarthritis
Osteoarthritis occurs when cartilage, the cushioning between joints, deteriorates, leading to pain, stiffness, and reduced mobility. While factors such as aging, injury, and obesity contribute to its onset, recent research suggests that nearly half of the risk is genetic. However, few studies have previously identified the specific causal genes behind this risk.
New genetic insights
“This study builds on previous work identifying over 100 DNA risk regions for osteoarthritis but narrows the focus to causal genes,” said Dr. Richard F. Loeser, Jr., director of the UNC Thurston Arthritis Research Center. “If we can identify the causal genes, we can use that information to define new genetic targets for therapies for osteoarthritis.”
The research team, supported by a $2.5 million grant from the National Institute of Arthritis and Musculoskeletal and Skin Diseases, employed a multi-disciplinary approach. Joint tissue from over 100 donors was used to develop a cellular model of osteoarthritis, simulating the disease in a lab environment. Using genomics and bioinformatics, the team identified 13 genes associated with osteoarthritis risk, six previously unknown.
Potential pathways for therapy
The newly identified genes could help researchers better understand these processes and identify potential therapeutic targets. The team is already expanding its study to include larger donor cohorts and additional cell types, aiming to uncover more genes linked to osteoarthritis risk.
Toward early intervention
Parallel drug screening studies are underway to identify compounds that target the pathways influenced by the 13 genes. “The hope is that we will be able to find new therapeutics that will stop the progression of joint damage at its earliest stages, preventing the development of pain and disability,” said Loeser.
This research offers a promising path forward for understanding and addressing osteoarthritis. It could potentially pave the way for treatments that intervene before significant joint damage and pain occur.
