Ankylosing Spondylitis Gene

Ankylosing Spondylitis (AS) is a chronic inflammatory autoimmune disease primarily affecting the spine and sacroiliac joints. The condition is largely influenced by genetic factors, with one of the most significant being the HLA-B27 gene.

HLA-B27 Gene and Ankylosing Spondylitis

• HLA-B27 Gene: The HLA-B27 gene is a part of the human leukocyte antigen (HLA) system, which helps the immune system distinguish between the body’s own cells and foreign invaders. The presence of this gene is a significant genetic marker associated with ankylosing spondylitis. Around 90-95% of individuals with AS test positive for HLA-B27. However, it is important to note that HLA-B27 is not the sole cause of AS, and many people with the gene will not develop the condition.
• Genetic Link: While having the HLA-B27 gene increases the likelihood of developing ankylosing spondylitis, other factors, such as environmental triggers (e.g., infections), may play a role in the development of the disease. The HLA-B27 gene is also linked to other autoimmune diseases like reactive arthritis, psoriatic arthritis, and inflammatory bowel disease.

Ankylosing Spondylitis Gene Test

• Testing for HLA-B27: The HLA-B27 gene test is used to determine if a person has the HLA-B27 gene. However, it is not a definitive test for diagnosing ankylosing spondylitis, as HLA-B27 can be found in individuals without AS. The test is typically used when AS is suspected, and the presence of HLA-B27 can support the diagnosis.
• How the Test Works: The test is usually performed through a blood sample or a cheek swab to detect the presence of the HLA-B27 protein. A positive test result can indicate an increased likelihood of developing AS, especially when symptoms such as chronic back pain, morning stiffness, and joint pain are present.
• Limitations of the Test: While the test can be helpful in determining genetic susceptibility, it is not enough to diagnose ankylosing spondylitis on its own. Other diagnostic tools, such as X-rays, MRI scans, and clinical evaluation, are necessary to confirm the condition.

Role of HLA-B27 in Ankylosing Spondylitis

• Immune System Dysfunction: The presence of HLA-B27 is thought to play a key role in the abnormal immune response that causes ankylosing spondylitis. It is believed that HLA-B27 triggers the immune system to attack the body’s own joints and ligaments, particularly in the spine and sacroiliac joints, leading to inflammation and eventual joint damage.
• Genetic Predisposition: Although HLA-B27 is a strong genetic factor, not everyone who carries the gene will develop ankylosing spondylitis. Other genetic and environmental factors are involved in the disease’s onset, and the condition can develop in HLA-B27-negative individuals as well.

While the HLA-B27 gene plays a significant role in ankylosing spondylitis, determining the genetic predisposition, managing AS symptoms is crucial for improving quality of life.

Curapod, a device that uses electrical stimulation, can be an effective complementary therapy for individuals diagnosed with ankylosing spondylitis, particularly for managing pain, muscle stiffness, and inflammation. While HLA-B27 may indicate a higher risk of developing AS, Curapod offers non-invasive relief that targets the muscles and joints affected by AS, helping to relax muscles, improve circulation, and reduce discomfort. By incorporating Curapod into the treatment plan, alongside other therapies like medications and physical therapy, patients can improve mobility and manage symptoms more effectively, even when HLA-B27-positive or experiencing disease progression.

The HLA-B27 gene is a significant genetic marker for ankylosing spondylitis, contributing to the immune dysfunction that leads to chronic inflammation and pain in the spine and sacroiliac joints. Testing for HLA-B27 can aid in diagnosing AS, but it is not definitive on its own. The presence of the gene, combined with symptoms and clinical evaluations, helps to establish a diagnosis of ankylosing spondylitis.

References

1. Mayo Clinic, 2022. Ankylosing Spondylitis: Symptoms and Causes. Available at: https://www.mayoclinic.org/diseases-conditions/ankylosing-spondylitis/diagnosis-treatment/drc-20352477 [Accessed 20 February 2025].
2. American College of Rheumatology, 2022. Ankylosing Spondylitis: Diagnosis and Treatment. Available at: https://www.rheumatology.org/Practice-Tools/Diseases-and-Conditions/Ankylosing-Spondylitis [Accessed 20 February 2025].
3. Spine-Health, 2022. Ankylosing Spondylitis: Symptoms, Causes, and Treatment. Available at: https://www.spine-health.com/conditions/neck-pain/ankylosing-spondylitis [Accessed 20 February 2025].