Diagnostiki Athinon's genetic predisposition to cardiovascular and respiratory diseases includes genetic testing for the predisposition of 15 different diseases.
The use of the polygenic risk score (PRS) in the context of cardiovascular and respiratory diseases involves combining information from multiple genetic polymorphisms to assess an individual's overall genetic predisposition to develop each condition separately.
The diseases of the cardiovascular and respiratory systems analyzed with this test are:
Angina is chest pain or discomfort caused by reduced blood flow to the heart muscle. It is often a symptom of underlying coronary artery disease and is usually caused by physical exertion or stress. Treatment includes medications to relieve pain, lifestyle modifications, and interventions such as angioplasty or coronary artery bypass surgery to improve blood flow to the heart. The assessment of the Polygenic Risk Score for angina pectoris is based on the examination of 44 gene polymorphisms.
Coronary artery disease occurs when the blood vessels supplying the heart muscle narrow or become obstructed, leading to reduced blood and oxygen flow to the heart. This can lead to chest pain (angina) or a heart attack. Management includes lifestyle changes, medications, and, in some cases, procedures such as angioplasty or bypass surgery. The assessment of the Polygenic Risk Score for coronary artery disease is based on the examination of 176 gene polymorphisms.
Myocardial infarction, commonly known as a heart attack, occurs when blood flow to a part of the heart muscle is blocked, leading to damage or death of heart tissue. Immediate medical intervention, such as angioplasty or thrombolytic therapy, is vital to restore blood flow and minimize heart damage. The assessment of the Polygenic Risk Score for myocardial infarction is based on the examination of 89 gene polymorphisms.
Heart failure occurs when the heart is unable to pump blood efficiently, leading to insufficient circulation. This can lead to symptoms such as shortness of breath, fatigue, and fluid retention. Management includes medications, lifestyle modifications, and, in some cases, surgeries to improve heart function and quality of life. The assessment of the Polygenic Risk Score for heart failure is based on the examination of 11 gene polymorphisms.
Arterial hypertension or high blood pressure is a common medical condition characterized by elevated blood pressure levels. It is a significant risk factor for cardiovascular disease, stroke, and kidney damage. Lifestyle modifications, such as a healthy diet, regular exercise, and medication, are usually enough to manage hypertension and reduce associated risks. The assessment of the Polygenic Index Score for arterial hypertension is based on the examination of 230 gene polymorphisms.
Hyperlipidemia refers to elevated levels of lipids in the blood, including cholesterol and triglycerides. It is a significant risk factor for cardiovascular disease. Lifestyle changes, dietary modifications, and medications are commonly used to manage hyperlipidemia and reduce the risk of heart-related complications. The assessment of the Polygenic Risk Score for hyperlipidemia is based on the examination of 44 gene polymorphisms.
Atrial fibrillation is a common heart rhythm disorder characterized by an irregular and rapid rhythm of the atria of the heart. This can lead to an increased risk of stroke and heart failure. Treatment includes medications to control heart rhythm, anticoagulants to prevent blood clots, and, in some cases, procedures to restore normal heart rhythm. The assessment of the Polygenic Risk Score for atrial fibrillation is based on the examination of 134 gene polymorphisms.
Peripheral artery disease (PAD) is a circulatory pathological condition in which narrowed arteries reduce blood flow to the extremities, most commonly to the legs. Symptoms may include pain, cramps, and weakness. Lifestyle changes, medications, and, in severe cases, surgeries are used to manage PAD and improve circulation. The assessment of the Polygenic Risk Score for peripheral artery disease is based on the examination of 18 gene polymorphisms.
Deep vein thrombosis (DVT) is a pathological condition characterized by the formation of blood clots in deep veins, often in the legs. DVT can lead to severe complications, such as pulmonary embolism, if a clot detaches and is transported to the lungs. Risk factors include immobility, surgery, and certain pathological conditions. Treatment includes anticoagulant drugs to prevent the development of clots and reduce the risk of complications. The assessment of the Polygenic Risk Score for deep vein thrombosis is based on the examination of 7 gene polymorphisms.
Hemorrhoidal disease, or hemorrhoids, refers to the swelling and inflammation of blood vessels in the rectum and anus, resulting in discomfort, bleeding, and itching. Lifestyle changes, dietary modifications, and medications can relieve symptoms, while more severe cases may require surgery. The assessment of the Polygenic Risk Score for hemorrhoidal disease is based on the examination of 103 gene polymorphisms.
An abdominal aortic aneurysm is a potentially life-threatening condition characterized by abnormal enlargement of the aorta. This main vessel supplies blood to the body as it passes through the abdomen. Typically, abdominal aortic aneurysms grow slowly over time and are often asymptomatic until they reach a size that carries a significant risk of rupture. Factors such as age, smoking, male gender, and family history increase the risk of developing this condition. When an aneurysm ruptures, it can lead to severe internal bleeding and an emergency. The diagnosis is often made through imaging tests, such as ultrasound or CT scan. Treatment options vary depending on the size and location of the aneurysm and range from careful monitoring to surgery to prevent rupture. Regular screening for people at high risk can help detect abdominal aortic aneurysms early, allowing for early and appropriate management. The assessment of the Polygenic Risk Score for abdominal aortic aneurysm is based on the examination of 10 gene polymorphisms.
An intracranial aneurysm is a swollen, weakened area in the wall of a blood vessel inside the brain. If an aneurysm ruptures, it can lead to a life-threatening hemorrhagic stroke. Treatment includes surgical repair to prevent rupture. The assessment of the Polygenic Risk Score for intracranial aneurysm is based on the examination of 16 gene polymorphisms.
Asthma is a chronic respiratory condition characterized by inflammation of the airways, 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.
Chronic obstructive pulmonary disease (COPD) is a progressive respiratory condition characterized by airflow restriction, often caused by exposure to irritants such as cigarette smoke. Symptoms include chronic cough, shortness of breath, and wheezing. Treatment includes smoking cessation, bronchodilators, and inhaled corticosteroids to relieve symptoms and improve lung function. The assessment of the Polygenic Risk Score for chronic obstructive pulmonary disease is based on the examination of 80 gene polymorphisms.
Lung cancer is a malignancy that originates in the lungs and is often associated with smoking. Symptoms may include persistent cough, chest pain, and shortness of breath. Treatment options include surgery, chemotherapy, radiation therapy, and targeted therapies, depending on the type and stage of the cancer. The assessment of the Polygenic Risk Score for lung cancer is based on the test 21 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.
