Diagnostiki Athinon’s genetic predisposition to immune system diseases (autoimmune and allergic diseases) includes genetic testing for the predisposition of 13 different diseases.
The polygenic risk score (PRS) is used in the context of autoimmune and allergic diseases (immune system disorders). It involves combining information from multiple genetic polymorphisms to assess an individual's overall genetic predisposition to develop each condition separately.
The autoimmune and allergic diseases (immune system disorders) analyzed with this test are:
Crohn's disease is a chronic inflammatory bowel disease affecting any part of the digestive system. It is characterized by abdominal pain, diarrhea, and weight loss. Treatment includes medications to control inflammation and manage symptoms and, in some cases, surgery to remove damaged parts of the digestive system. The assessment of the Polygenic Risk Score for Crohn's disease is based on the examination of 104 gene polymorphisms.
Ulcerative colitis is a chronic inflammatory bowel disease that mainly affects the large intestine and rectum, leading to symptoms such as abdominal pain, diarrhea, and rectal bleeding. Treatment aims to control inflammation and manage symptoms, often with medications and, in some cases, surgery. The Polygenic Risk Score for ulcerative colitis is based on the examination of 5 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.
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease affecting various organs and tissues, leading to inflammation and symptoms such as joint pain, skin rashes, and fatigue. Treatment may include medications to control inflammation, manage symptoms, and prevent complications. The assessment of the Polygenic Risk Score for systemic lupus erythematosus is based on the examination of 28 gene polymorphisms.
Psoriasis is a chronic autoimmune skin condition characterized by rapidly accumulating skin cells, leading to red, scaly plaques. It can also affect the joints, leading to psoriatic arthritis. Treatment includes topical medications, phototherapy, systemic medications, and biological agents to manage symptoms and control inflammation. The assessment of the Polygenic Risk Score for psoriasis is based on the examination of 54 gene polymorphisms.
Vitiligo is a skin disorder characterized by the loss of pigment, resulting in white spots on the skin. It occurs when the immune system attacks and destroys melanocytes, the cells responsible for producing the pigment. Treatment may include local medications, phototherapy, and cosmetic camouflage. The assessment of the Polygenic Risk Score for vitiligo is based on the examination of 43 gene polymorphisms.
Type 1 diabetes mellitus is an autoimmune condition in which the immune system attacks and destroys insulin-producing beta cells in the pancreas. This results in a lack of insulin, the hormone necessary to regulate blood sugar. People with type 1 diabetes require lifelong insulin treatment and careful monitoring of blood glucose levels to manage the condition. The assessment of the Polygenic Index Score for type 1 diabetes mellitus is based on the examination of 110 gene polymorphisms.
Graves' disease is an autoimmune disorder that results in overproduction of thyroid hormones, leading to hyperthyroidism. Common symptoms include weight loss, rapid heartbeat, and irritability. Treatment options include medications to regulate thyroid function, treatment with radioactive iodine, or surgery to remove the thyroid gland. The assessment of the Polygenic Risk Score for Graves' disease is based on examining 22 gene polymorphisms.
Multiple sclerosis is a chronic autoimmune condition that affects the central nervous system, leading to a variety of neurological symptoms such as fatigue, muscle weakness, and coordination problems. Treatment options aim to manage symptoms and modify the course of the disease, often with medications and physical therapy. The assessment of the Polygenic Risk Score for multiple sclerosis is based on examining 190 gene polymorphisms.
Primary biliary cirrhosis (PBC) is a chronic autoimmune liver disease characterized by the destruction of small bile ducts in the liver. This condition can lead to cirrhosis and liver failure. Treatment includes medications to slow disease progression and manage symptoms, with liver transplantation considered in severe cases. The assessment of the Polygenic Risk Score for primary biliary cirrhosis is based on the examination of 38 gene polymorphisms.
Allergic rhinitis is an inflammatory condition of the nasal passages caused by allergens such as pollen, dust mites, or pet dander. Symptoms include sneezing, nasal congestion, and itching or a runny nose. Management includes avoidance of allergens, antihistamines, nasal corticosteroids, and other medications to relieve symptoms. The assessment of the Polygenic Risk Score for allergic rhinitis is based on the examination of 35 gene polymorphisms.
Asthma is a chronic respiratory condition characterized by airway inflammation, leading to symptoms such as wheezing, shortness of breath, and chest tightness. Triggers may include allergens, respiratory infections, and exercise. Treatment includes bronchodilators and anti-inflammatory drugs to control symptoms and prevent asthma attacks. The assessment of the Polygenic Risk Score for asthma is based on the examination of 123 gene polymorphisms.
Atopic dermatitis, also known as eczema, is a chronic inflammatory skin condition characterized by itching and inflammation of the skin. It often begins in childhood and can persist into adulthood. Management includes moisturizers, topical corticosteroids, and other medications to reduce inflammation and relieve symptoms. The assessment of the Polygenic Risk Score for atopic dermatitis is based on examining 23 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.
