Polygenic score
Influential genes: ZFHX3,COL4A1,SH3PXD2A
Variants in the ZFHX3 gene have been associated with an increased risk of atrial fibrillation, which is a known risk factor for stroke.
Mutations in the COL4A1 gene have been linked to a variety of cerebrovascular diseases, including stroke.
SH3PXD2A has been identified in genome-wide association studies (GWASs) of stroke and its subtypes as a putative causal gene.
Stroke is a disease that occurs when the blood supply of the brain (or an area of the brain) is disrupted. We can divide them into ischemic strokes (85%) - due to narrowing or occlusion of vessels supplying the brain - and hemorrhagic strokes (15%) - due to a rupture of those vessels. The prevalence in Europe is around 5-10%, it affects older individuals much more often. Other risk factors include male sex, race, some lifestyle factors (obesity, low physical activity, alcohol, smoking, etc.), personal or family history of stroke or heart attack, high blood pressure, high cholesterol, diabetes mellitus, obstructive sleep apnea, and cardiovascular diseases. Strokes in young females are often connected to the use of oral contraceptives, diseases making blot clotting more likely, and high amounts of hormones.
The typical symptoms and signs of stroke are speech problems, paralysis or numbness of the face, arm, or leg, visual problems, a sudden severe headache, trouble walking, etc. You can recognize stroke signs using a mnemonic FAST.
F - face - ask the person to smile (one side of the face may be dropped)
A - arms - ask the person to raise both arms (one arm may fall down or can’t be lifted)
S - speech - ask the person to repeat a simple sentence (slurred, absent, or strange speech)
T - time is brain - call an ambulance!
Proper diagnosis can only be done in a hospital, the faster a patient reaches the hospital, the better the prognosis. The therapy depends on the type of stroke.
You can lower your chances of getting a stroke by minimizing the risk factors. It is beneficial to lead a healthy lifestyle and control your blood pressure and cholesterol levels. Stroke is the second leading cause of death worldwide and causes serious disability in those who survive.
The estimated prevalence of stroke in Europe is around 5% in people younger than 75 and more than 10% in people older than 80.
There are many risk factors that predispose the individual to stroke. These include:
A very small proportion of strokes are attributable to monogenic conditions, the vast majority being multifactorial, with multiple genetic and environmental risk factors.
Stroke is a complex syndrome with both modifiable (lifestyle) and nonmodifiable (age, genetics) risk factors. Research suggests that genetic polymorphisms leading to certain syndromes might also influence the risk of stroke. However, even though several variants have been observed, the effect of each variant is considered to be relatively small.
The research on underlying genetic causes of stroke is focused on multiple targets:
Disorders such as atrial fibrillation, diabetes mellitus, hypertension, or sickle cell anemia are examples of disorders contributing to the risk of stroke.
Family studies and studies of twins are necessary not only for research focused on stroke. The prevalence of stroke has been previously estimated at 12.3% in first-degree relatives of stroke patients vs. 7.5% in the control group of healthy controls relatives.[1,2]
Genetic testing allows us to detect whether you have the predisposition to develop this disease. In Macromo, we use polygenic risk scores and causative evidence-based genetic variants for evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development.
Stroke can have various manifestations since it can affect any brain part. Depending on the location of the stroke it leads to different neurological symptoms and signs. These are the most common:
You can recognize the stroke signs by using a mnemonic FAST:
F - face - ask the person to smile (one side of the face may be dropped)
A - arms - ask the person to raise both arms (one arm may fall down or can’t be lifted)
S - speech - ask the person to repeat a simple sentence (slurred, absent, or strange speech)
T - time is brain - call an ambulance!
In the hospital, a CT scan will be performed to distinguish between ischemic and hemorrhagic strokes. Other examination methods can include CT-angiography, MRI, and certain lab tests.
Depending on the type of stroke it is managed differently. An ischemic stroke might be treated with a tissue plasminogen activator e.g. alteplase to dissolve the blood clot blocking the artery (IV thrombolysis) or invasive thrombectomy (mechanical extraction of the thrombus using a catheter). If the stroke is hemorrhagic, the treatment is focused on the reversal of blood thinning (anticoagulation) states (stopping all anticoagulants and antiplatelet drugs and administering antidotes if necessary). Blood pressure control is another important part of the treatment of hemorrhagic strokes.
You can minimize the risk of having a stroke by minimizing the possible risk factors. Lifestyle changes can help a lot, it is recommended to have a healthy diet, exercise regularly, stop drinking alcohol, smoking, and using drugs, as well as to avoid using oral contraceptives. It is also important to control your blood pressure, cholesterol levels, and glucose levels. In case you are suffering from obstructive sleep apnea and cardiovascular diseases, you should get treated for those.
Stroke is a very serious medical condition with high mortality. It is the second most common cause of death worldwide.
Those people who survive the stroke might have various long-term neurological deficits (speech problems, paralysis, etc.). They can improve with rehabilitation but the disability can also persist and cause serious deterioration of the individual’s quality of life.
Get the guidelines for a healthier and longer life. With Macromo tests, you'll learn your health risks and how to prevent them.
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