Diagnostiki Athinon’s genetic predisposition to musculoskeletal system diseases includes genetic testing for the predisposition of 12 different diseases.
The polygenic risk score (PRS) is used in the context of musculoskeletal system diseases. It combines information from many genetic polymorphisms to assess an individual's overall genetic predisposition to the manifestation of each condition separately.
The diseases of the musculoskeletal system analyzed with this test are:
Osteoporosis is characterized by weakened bones, leading to an increased risk of fractures. It often occurs in postmenopausal women and older adults. Treatment includes drugs to strengthen bones, calcium and vitamin D supplements, and lifestyle changes to reduce fracture risk. The assessment of the Polygenic Risk Score for osteoporosis is based on the examination of 7 gene polymorphisms.
Rheumatoid arthritis is a chronic autoimmune disorder that primarily affects the joints, causing inflammation, pain, and joint damage. It can also affect other organs. Treatment includes medications to reduce inflammation, manage symptoms, and slow disease progression, along with physical therapy and lifestyle modifications. The assessment of the Polygenic Risk Score for rheumatoid arthritis is based on the examination of 73 gene polymorphisms.
Osteoarthritis is a degenerative joint disorder characterized by the breakdown of cartilage, leading to pain, stiffness, and reduced joint mobility. It usually affects weight-bearing joints like the knees, hips, and spine. Treatment includes pain management, exercise, and lifestyle modifications, with joint replacement surgery considered in severe cases. The assessment of the Polygenic Risk Score for osteoarthritis is based on examining 27 gene polymorphisms.
Osteoarthritis of the hip is a specific form of osteoarthritis that affects the hip joint, causing pain, stiffness, and reduced range of motion. Treatment options include medications, physical therapy, and, in advanced cases, hip replacement surgery. The assessment of the Polygenic Risk Score for hip osteoarthritis is based on the examination of 28 gene polymorphisms.
Osteoarthritis of the knee is a form of osteoarthritis that affects the knee joint, resulting in pain, swelling, and difficulty moving. Treatment approaches may include pain management, exercise, and, in severe cases, knee replacement surgery. The Polygenic Risk Score assessment for knee osteoarthritis is based on the examination of 11 gene polymorphisms.
Juvenile idiopathic arthritis is a group of chronic inflammatory diseases of the joints that affect children. The exact cause is unknown; symptoms may include joint pain, swelling, and stiffness. Treatment aims to control inflammation, relieve pain, and maintain joint function, often with medications and physical therapy. The assessment of the Polygenic Risk Score for juvenile idiopathic arthritis is based on examining 13 gene polymorphisms.
A gout is a form of arthritis characterized by the accumulation of uric acid crystals in the joints, leading to inflammation and severe pain, usually in the big toe. Gout is often linked to lifestyle factors such as diet and excessive alcohol consumption. Medications, lifestyle changes, and dietary modifications are used to manage gout and prevent recurrent attacks. The assessment of the Polygenic Risk Score for gout is based on the examination of 22 gene polymorphisms.
Dupuytren's disease, also known as Dupuytren's contracture, is a condition in which the tissues under the skin of the palm and fingers thicken, causing the fingers to curl inward. This can limit the function of the hand. Treatment options include injections and surgery to release dense tissue. The assessment of the Polygenic Risk Score for Dupuytren's disease is based on the examination of 42 gene polymorphisms.
Fasciitis is inflammation of the fascia, the connective tissue surrounding muscles, nerves, and blood vessels. Plantar fasciitis, for example, involves inflammation of the fascia in the foot, causing heel pain. Treatment includes rest, stretching exercises, and, in some cases, physical therapy. The assessment of the Polygenic Risk Score for fasciitis is based on the examination of 38 gene polymorphisms.
Carpal tunnel syndrome is a condition that occurs when the median nerve, which runs through the wrist to the hand, is compressed. This compression leads to numbness, tingling, and weakness in the hand and fingers. Treatment may include wrist splints, medications, and, in severe cases, surgery to relieve pressure on the nerve. The assessment of the Polygenic Risk Score for carpal tunnel syndrome is based on the examination of 11 gene polymorphisms.
Abdominal hernia is a pathological condition characterized by the prolapse of an organ or tissue through a weakened area in the abdominal wall, often presented as visible swelling. It can result from weightlifting, obesity, or chronic cough, and surgery is often required to repair the hernia and strengthen the weakened abdominal wall. The assessment of the Polygenic Risk Score for abdominal hernia is based on the examination of 11 gene polymorphisms.
An inguinal hernia is characterized by the prolapse of abdominal contents, such as a portion of the intestine, through a weakened area in the inguinal canal, leading to swelling in the groin. Surgery is often necessary to repair the hernia and strengthen the abdominal wall. The assessment of the Polygenic Risk Score for inguinal hernia is based on examining 18 gene polymorphisms.
Polygenic Risk Score
The Polygenic Risk Score (PRS) is a numerical value that summarizes a person's genetic predisposition to a particular trait, condition, or disease based on information from multiple genetic variants throughout the genome. Polygenic risk scores are used in genetics to evaluate the cumulative effect of multiple genetic factors on a particular outcome.
The polygenic risk score shall be calculated as follows:
- Genetic variations: A set of genetic variants, often single-nucleotide polymorphisms (SNPs), associated with a particular trait or disease are identified. These SNPs are distributed throughout the individual's genome.
- Weighted contributions: Each genetic variant is assigned a weight (weighted contribution) based on its observed association with the trait or disease in large-scale genetic studies. Weighted contributions are determined through statistical analyses that consider the strength of the association for each variant.
- Summing: The weights of genetic variants are then combined for an individual to create the polygenic risk score. This score reflects the individual's genetic risk for the trait or disease.
- Interpretation: The polygenic risk score is often expressed as a numerical value. Higher values indicate a greater genetic predisposition to the trait or disease, while lower markers indicate a lower genetic risk.
Polygenic risk scores have been applied to various health-related conditions, including complex diseases such as diabetes, heart disease, and psychiatric disorders. They are increasingly used to assess a person's genetic predisposition to situations with a multifactorial genetic basis.
In the context of many diseases, such as those mentioned before, polygenic risk markers are used to understand better the genetic component of the risk of developing the disease. These markers can help identify high-risk individuals without a strong family history and have applications in personalized medicine, risk prediction, and early intervention.
It is important to note that although polygenic risk scores provide valuable information about genetic risk, they are only one piece of the puzzle. Environmental factors, lifestyle choices, and other non-genetic factors also play an essential role in developing complex diseases.
