What does this mean?
Of the 962 genetic associations, the researchers identified 700 genes that appear to influence the risk of osteoarthritis.
- About 10% of these genes regulate proteins that are already targeted by approved drugs, which opens the possibility that some existing medications could potentially also be used for osteoarthritis, and may also accelerate the development of new treatments.
- The genes affect biological processes that are important for the joints, such as cartilage formation, bone growth, and inflammation.
- Osteoarthritis is not caused by a single gene, but by many genetic variations together with environmental factors such as age, weight, and lifestyle.
Which biological processes are important?
The study highlights eight key processes:
- Circadian rhythms – influence cell function and tissue aging.
- Glial cell processes – linked to inflammation and pain.
- TGFβ signaling – important for cartilage and bone repair.
- FGF signaling – controls cell growth and tissue regeneration.
- WNT signaling – regulates cartilage formation and bone structure.
- BMP signaling – central to skeletal development.
- Retinoic acid signaling – regulates how cells develop and acquire their function.
- Extracellular matrix – determines the strength and elasticity of cartilage.
Why is this important?
This knowledge may provide new clues to why osteoarthritis develops and how it can be slowed. It represents a step toward precision medicine, where treatments are tailored to an individual’s genes and biological processes.
After the osteoarthritis study, Swedish researchers are continuing to work along several lines:
1. Functional analysis of genes
• Research groups at Lund University and Karolinska Institute are studying how the identified genes affect cartilage, bone, and inflammation.
• The goal is to understand which genes are most relevant for disease development and could become drug targets.
2. Biomarkers and risk profiles
• Development of genetic risk models to identify individuals at high risk of osteoarthritis early.
• Combining genetic data with blood samples and imaging to create precision diagnostics.
3. Clinical biobanks and patient cohorts
Projects are building biobanks with tissue samples from osteoarthritis patients.
The aim is to link molecular data to patients’ symptoms and disease progression.
4. Drug development and drug repurpose
• Swedish researchers are participating in international projects testing whether existing drugs (which already target certain signaling pathways, such as TGFβ and WNT) can be used to treat osteoarthritis.
• Screening of new compounds that influence cartilage formation.
5. Personalized treatment and digital solutions
Lund University is developing a modernized osteoarthritis school with digital tools and individualized support.
The focus is on reducing disparities in access to care and improving patient engagement.
6. Epidemiology and AI
• Large Swedish registries are being used to map disease prevalence and risk factors.
• AI models are being developed to predict disease progression and optimize treatment.
Article:
Translational genomics of osteoarthritis in 1,962,069 individuals | Nature
