Is Osteoarthritis Genetic?

Genetics can certainly play a role in your likelihood of developing osteoarthritis, but they’re not the sole determining factor. This means that while family history influences susceptibility, it does not cause the breakdown of joint cartilage or the inability to regenerate new, healthy joint tissues.

Below we’ll explore the types of osteoarthritis, genetic causes, and other important risk factors to consider.

What It Is

Osteoarthritis refers to the most common type of bone arthritis and has also been referred to as degenerative joint disease (DJD). It is a leading cause of disability. According to one estimate, greater than 70% of the population of the United States at age 65 years is affected by the disease.

Age-associated osteoarthritis is considered primary osteoarthritis. It is the most common and it primarily affects the fingers, thumbs, spine, hips, knees, and the great (big) toes. 

In most cases, it occurs with wear-and-tear and an inability to rebuild lost cartilage between jointsCartilage is a rubbery and flexible connective tissue whose development is influenced by certain gene variants. It is made up of cells and two proteins called collagen and proteoglycans (traps water in cartilage).

Secondary osteoarthritis typically occurs from a sports injury or trauma to the joint, a congenital joint disorder, or alongside inflammatory or infectious arthritis. 

With the loss of this cushioning between the joints, friction becomes common in areas including fingers, knees, and hips. Friction causes inflammation, swelling, redness, tenderness, heat, and eventual bone damage or deformity, and limitations to range of motion.

Who Is Most at Risk for Osteoarthritis?

Those most at-risk for osteoarthritis include those who have had previous joint-related injury including an anterior cruciate ligament (ACL) tear, people who are overweight, people who engage in joint-stressing activities, and people as they age and joint cartilage begins to thin.

Postmenopausal women have an increased incidence of osteoarthritis compared to men of the same age range. 

Studies have repeatedly found an association between postmenopausal estrogen and a higher prevalence of clinical osteoarthritis. A review study found the highest prevalence of osteoarthritis in postmenopausal women. 

Genetic Causes

Understanding the crucial role of cartilage in joint movement and function helps connect the dots between the genetic causes and susceptibility of developing osteoarthritis. The specific genes that influence your individual risk factor are associated with forming and maintaining bone and cartilage. 

Subtle changes to gene variations can impair the function of joint tissue and increase the risk of developing osteoarthritis. These changes include genes not being expressed in the right location, at the right time, or in the right amount.

Susceptibility to osteoarthritis has been associated with variation in genes including: 

  • FRZB gene (605083) on chromosome 2q32 
  • OS2 (140600) with variation in the MATN3 gene (602109) on chromosome 2p24 
  • OS3 (607850) with variation in the ASPN gene (608135) on chromosome 9q22
  • OS5 (612400) with variation in the GDF5 gene (601146) on chromosome 20q11

Having a genetic predisposition to obesity may also increase your risk of developing osteoarthritis. 

Recent Genetic Discoveries

Research in recent years has revealed novel biomarkers of primary osteoarthritis and secondary arthritis. A 2016 review study found new potential knee biomarkers with specific references to several adipocytokines (cytokine mediators) including leptin and adiponectin. 

Another study published in 2018 identified nine new genes associated with osteoarthritis. It also established causal effects on osteoarthritis for higher body mass index, but not for triglyceride levels or genetic predisposition to type 2 diabetes.

Other Causes

Genetics influence susceptibility but they do not cause osteoarthritis. Being a woman, aging, experiencing joint trauma or injury, and engaging in repetitive movements like frequent bending and squatting are all also factors that can contribute to your likelihood of developing osteoarthritis. 

For example, the Arthritis Foundation reports that being just 10 pounds overweight puts an extra 15-to-50 pounds of pressure on your knees. The upside is that losing 10% of your body weight can cut arthritis pain in half. 

A Word From Verywell

Tell your doctor about any family history of osteoarthritis or other degenerative joint diseases; and always make note of any physical changes including undiagnosed and unprompted swelling, tenderness, redness, pain, stiffness, and general malaise.

Remember that susceptibility doesn’t equal certainty. There are actions you can take to help support bone health and reduce the risk of injury. Research is also working on new ways of understanding the critical role of genes in disease risk. Before long, this may lead to novel therapies and treatments yet to be determined.  

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Article Sources
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