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Stroke is one of the leading causes of death in Japan and is a serious disease that can lead to the need for nursing care. In recent years, advances in genetic research have revealed that an individual’s genetic background affects the risk of stroke. This article provides a detailed explanation of how to assess stroke risk using genetic testing and preventive measures.
What is a stroke?
Stroke is a general term for “cerebral infarction” when blood vessels in the brain become blocked, “cerebral hemorrhage” when blood vessels rupture, and “subarachnoid hemorrhage.” Cerebral infarction in particular accounts for approximately 60% of all strokes, and can cause a variety of aftereffects, such as paralysis of the limbs and speech disorders.
The relationship between genes and stroke
RNF213 gene and cerebral infarction
A study of Japanese subjects has revealed that the p.R4810K polymorphism (commonly known as the “main polymorphism”) of the RNF213 gene increases the risk of atherothrombotic cerebral infarction. People with this mutation have a 3.58 times higher risk of developing cerebral infarction than those without the mutation, and this risk is particularly prominent in women.
A study at Iwate Medical University developed a method to predict the risk of developing cerebral infarction (iPGM) using information from approximately 357,000 gene loci. This method showed that the risk of developing cerebral infarction was 2.4 times higher in those with a high genetic score than in those with a low genetic score.
The genetic testing service “GeneQuest ALL” can check for genetic tendencies for more than 350 health risks and constitutions, including cerebral infarction. This test allows you to understand your own genetic risks and take appropriate preventive measures.
Even if you have a high genetic risk, you can reduce your risk of stroke by making lifestyle changes. Specifically, you should pay attention to the following points:
Managing high blood pressure: Limit salt intake and get moderate exercise.
Preventing diabetes: Eat a balanced diet and exercise regularly.
Quitting smoking: Smoking increases the risk of stroke, so it is recommended to quit smoking.
Regular health check-ups
For early detection and appropriate measures, it is important to undergo regular health checkups. If you have a family history or genetic risk, consider having a detailed examination by a specialist.
Use of genetic testing
The genetic testing service “GeneQuest ALL” can check for genetic tendencies for over 350 health risks and constitutions, including cerebral infarction. This test can analyze not only the presence or absence of mutations in the RNF213 gene, but also other genetic markers related to stroke. Understanding an individual’s genetic risk makes it possible to take appropriate preventive measures.
In addition, genetic testing services such as “MyCode” and “Health Data Lab” also provide stroke risk assessments and allow users to easily analyze their genetic information at home using a test kit. By using these services, users can predict future risks and take early measures.
Advice for people at genetic risk
If genetic testing indicates an increased risk of stroke, lifestyle changes may be recommended, including the following:
Reviewing your diet
Limit your salt intake and keep your blood pressure under control.
Adopt a Mediterranean diet that’s rich in vegetables, fruit and fish.
Reduce your intake of saturated fatty acids to prevent arteriosclerosis.
Moderate exercise
Make aerobic exercise (walking, jogging, etc.) a habit to improve blood flow.
Incorporate strength training to improve cardiovascular fitness.
No smoking and drinking in moderation
Smoking promotes arteriosclerosis and significantly increases the risk of stroke, so be sure to quit smoking.
Drinking in moderation is recommended as excessive alcohol can cause high blood pressure.
Stress Management
Incorporate relaxation techniques such as meditation and deep breathing.
Get enough sleep and maintain balance of the autonomic nervous system.
Regular health check-ups
Check your blood pressure, blood sugar, and cholesterol levels regularly, and take action early if any abnormalities are found.
Latest research into stroke prevention
Recent research has shown that even if you have a high genetic risk, it is possible to prevent stroke by maintaining a proper lifestyle. Here we will introduce the latest research results.
1. The influence of diet
A Harvard University study found that a diet high in nuts, fish, and olive oil reduced the risk of stroke by about 30%. Fish, especially those rich in omega-3 fatty acids (such as salmon, tuna, and sardines), help maintain vascular health.
2. The relationship between genes and exercise
A study from Oxford University showed that people with a genetically high risk of stroke could reduce their risk by more than 50% by engaging in regular exercise, particularly walking or cycling for at least 30 minutes a day.
3. Benefits of quitting smoking
According to a study by the American Heart Association (AHA), smokers with genetic risk can reduce their stroke risk by about 40% by quitting smoking. In particular, the earlier one starts smoking, the higher the risk, so it is important to quit smoking at a young age.
Stroke risk factors specific to Japanese people
Japanese people tend to have a higher risk of stroke than Westerners. This is related not only to genetic factors, but also to diet and lifestyle.
1. Effects of High Blood Pressure
Japanese people are prone to developing high blood pressure due to their high salt intake, which is a major risk factor for stroke. The World Health Organization (WHO) recommends limiting daily salt intake to 5g or less, but the average Japanese intake exceeds 10g.
2. Effects of genetic polymorphisms
It has been reported that genetic polymorphisms specific to Japanese people (for example, mutations in the CYP2C19 gene) increase the risk of stroke. In particular, people with this genetic mutation tend to be less effective at treating antiplatelet drugs (aspirin and clopidogrel), so it is necessary to consult with a doctor and receive appropriate treatment.
3. Lifestyle and stress
In Japan’s social environment, long working hours and excessive stress are common, which are factors that increase the risk of stroke. Being conscious of stress management and maintaining physical and mental health are important for prevention.
Future possibilities of genetic testing
As genetic research advances, the accuracy of stroke risk prediction is improving. In particular, the development of next-generation sequencing technology is expected to enable the analysis of more genetic information and the realization of personalized medicine.
1. Application of gene editing technology
With the development of gene editing technologies such as CRISPR-Cas9, gene therapy to reduce stroke risk may become possible in the future. Currently, gene editing has many ethical challenges, and it is thought that it will take time before it can be applied clinically.
2. Risk Prediction Using AI
Artificial intelligence (AI)-based risk assessment systems are being developed that combine genetic data with health check data to enable more accurate stroke risk prediction. For example, risk prediction models using deep learning have been shown to predict the onset of stroke with greater accuracy than traditional methods.
3. Personalized medicine and prevention strategies
It is believed that in the future, “personalized medicine,” which proposes optimal preventive measures and treatments for each individual based on genetic information, will become mainstream. Personalized health management programs that utilize genetic information have already begun to be introduced in Europe and the United States, and future developments are expected in Japan as well.
References and Research Links
Relationship between RNF213 gene and cerebral infarction
Specific ways to use genetic testing to reduce stroke risk
1. Use of genetic testing as preventive medicine
By undergoing genetic testing, it is possible to grasp the risk of developing a stroke in advance and take preventive measures early on. Currently, the following genetic testing services are offered in Japan, and health management according to individual risks is recommended.
GeneQuest : Analyzing the risk of various diseases, including stroke
MYCODE: Risk assessment for lifestyle-related and genetic diseases
Health Data Lab: Genetic testing specialized for health management
With these services, it is possible to consult with doctors and specialists based on the test results and develop appropriate lifestyle improvement measures
2. Use of genetic testing in medical institutions
Genetic testing is actively used by medical institutions to identify risk factors that cannot be fully identified through general health checkups. Genetic testing is especially recommended in the following cases:
Family history: If a parent or sibling has had a stroke, genetic testing may be warranted to assess your inherited risk.
If you have a stroke at a young age: Stroke is usually a disease that is common in the elderly, but if you have a stroke at a young age, there is a high possibility that genetic factors are involved, so detailed genetic testing is recommended.
If you have high blood pressure or diabetes: People with genetic predisposition to diseases are at increased risk of stroke, so risk assessment through genetic testing is important.
3. Customized medical care based on genetic test results
The importance of “customized medicine,” which provides optimal treatment and prevention measures according to individual genetic risks, is increasing. Based on the results of genetic testing, doctors will be able to take the following measures:
Choice of antiplatelet drug
It has been reported that some antiplatelet drugs (clopidogrel) are less effective in people with genetic mutations in the CYP2C19 gene. Therefore, ticagrelor or prasugrel may be chosen as alternative drugs.
Choice of antihypertensive drug
It has been reported that the effects of ARBs (angiotensin receptor blockers) and ACE inhibitors vary depending on genetic polymorphisms, making it possible to select the antihypertensive drug that is most suitable for each individual.
Customized diet
Different APOE gene types have different lipid metabolism tendencies and altered stroke risk, so adjustments to lipid intake are recommended.
Latest trends in stroke genetic research
1. Discovery of new risk factors through genome-wide association studies (GWAS)
Recent genome-wide association studies (GWAS) are discovering new genetic markers related to the onset of stroke.
Large-scale study in 2022
A large-scale GWAS study conducted jointly by European and Asian researchers identified 35 new loci involved in stroke risk.
These loci are associated with blood pressure regulation, lipid metabolism, and vascular function and may represent targets for personalized therapy in the future.
Gene editing and stroke treatment
Gene editing using CRISPR-Cas9 is being investigated as a new treatment for reducing the risk of stroke.
Although it is currently in the animal testing stage, it is hoped that it will be used as a preventive treatment for high-risk groups in the future.
2. Risk prediction using AI and genetic data
A stroke risk prediction model using artificial intelligence (AI) has been developed, making it possible to make more accurate predictions than conventional risk assessments.
Deep learning-based analysis
Algorithms are being developed that combine large-scale genetic and lifestyle data to predict individual stroke risk.
By utilizing AI, it is now possible to analyze complex interactions between genes and environmental factors that would have been overlooked using conventional statistical models.
Risk management using smartphone apps
Apps are now available that provide personalized risk assessments and health management advice based on the results of genetic tests.
For example, apps such as “GenomicsAI” and “HealthDNA” link users’ genetic information with their everyday health data to suggest preventive measures in real time.
Health management for the whole society using genetic testing
1. Introduction to corporate health management programs
In recent years, many companies have begun to introduce genetic testing as part of their employee health management. For example, the following initiatives are being implemented:
Adding genetic testing to employee health checkups
Some companies are offering genetic testing, including stroke risk, as an option in employee health screenings.
Workplace stress management and prevention
In some cases, employees who are identified as having a genetically impaired tolerance for stress may be offered special mental health support programs.
2. Application to public health policy
At the government level, efforts are also underway to introduce health promotion programs that utilize genetic information.
Japan’s Genomic Medicine Promotion Plan
The Ministry of Health, Labour and Welfare has announced its policy to promote genomic medicine in order to realize personalized medicine.
In the future, the goal is to utilize genetic data from the entire population to strengthen preventive measures against lifestyle-related diseases, including stroke.
Advances in personalized medicine to reduce stroke risk
1. Gene-environment interactions
The onset of stroke is closely related to not only genetic factors, but also lifestyle and environmental factors. Recent research has made it possible to derive more effective preventive measures by analyzing the interactions between genes and the environment.
(1) Influence of diet and genes
One study reported that people with the E4 form of the APOE gene have a two-fold increased risk of stroke when they eat a high-fat diet . People with this genetic mutation may be able to reduce their risk by increasing their intake of fish and nuts rich in omega-3 fatty acids and limiting their intake of saturated fats.
On the other hand, it is known that people with MTHFR gene mutations have a higher risk of stroke due to their blood vessels becoming fragile if they do not consume enough folic acid . Therefore, it is recommended that they actively consume green and yellow vegetables that are rich in folic acid (spinach, broccoli, etc.).
(2) Optimization of exercise programs based on genotype
The effect of exercise also varies depending on genetic factors. For example, people with type I of the ACE gene benefit more from aerobic exercise, and regular walking or jogging may reduce the risk of stroke by more than 30%. On the other hand, people with type D benefit more from strength training, so combining it with resistance training is thought to help manage blood pressure .
(3) Stress tolerance and stroke risk
It has been shown that people with COMT gene mutations have a low tolerance to stress, and that chronic stress increases the risk of stroke. For these people, relaxation techniques such as meditation, yoga, and mindfulness are effective, and thorough stress management may reduce the risk .
Leveraging the latest stroke prevention strategies and technologies
2. Early detection and management using wearable devices
To prevent stroke in people with genetic risk, it is effective to use wearable devices that can monitor health conditions in real time .
(1) Blood pressure management using smartwatches
Smartwatches like the Apple Watch and Fitbit can track heart rate variability and help detect arrhythmias early. Recent studies have shown that these devices can detect atrial fibrillation, a precursor to stroke, with about 80% accuracy.
(2) Blood glucose monitoring and stroke risk
Diabetes significantly increases the risk of stroke, so it is important to control blood sugar levels. Recently, wearable devices with non-invasive blood sugar monitoring capabilities have been developed, which may allow real-time monitoring of postprandial blood sugar spikes and allow risk management by adjusting diet .
3. Personalized medicine through the combination of genetic testing and AI
Advances in AI technology are making it possible to combine genetic and lifestyle data to create personalized stroke prevention plans.
(1) AI diagnostic system using genetic data
The latest AI algorithms can analyze thousands of genetic and clinical data sets to predict stroke risk . For example, IBM Watson is developing a system that uses medical big data to recommend optimal treatment and lifestyle choices based on an individual’s genetic risk .
(2) Combination of genetic and lifestyle data
Google Health is building a system that combines genetic data with lifestyle data from fitness trackers to tailor a user’s stroke prevention plan in real time . For example, someone with a genetic mutation that makes them more susceptible to high blood pressure will be given specific advice such as “reducing their daily salt intake” and “incorporating moderate exercise.”
Ethical issues and future prospects for genetic testing
4. Genetic Information Privacy and Ethical Issues
Genetic information is highly personal data and requires careful consideration when handling it. As genetic testing becomes more widespread, the following ethical issues have arisen:
(1) Risk of genetic discrimination
In some countries, there have been reported cases where restrictions on life insurance coverage have been imposed based on the results of genetic testing . For this reason, Japan is also working on establishing laws to prevent the misuse of genetic data.
(2) Safety management of genetic information
If a company that stores genetic data is subjected to a cyber attack, there is a risk that personal genetic information will be leaked . To prevent this, data encryption and access restrictions must be strictly implemented.
Gene editing using CRISPR technology has the potential to reduce genetic risks, but ethical issues remain under debate: “To what extent is this acceptable?” In particular, there is disagreement over whether genetic modification of embryos will be permitted in the future.
The Future of Genetic Testing and Personalized Medicine
5. The Future of Medical Systems
Genetic testing and personalized medicine for stroke prevention are expected to continue to develop in the future.
(1) National projects using genetic data
In Japan, the Genomic Medicine Promotion Project is underway, and public health measures are being planned that utilize the genetic data of the entire population.
(2) Prospects for next-generation medical care
In the future, it is believed that tailored treatments and preventive measures based on an individual’s genetic information will become commonplace .
6. Future possibilities and challenges of genetic testing
(1) Further spread of genetic testing
In recent years, the cost of genetic testing has fallen significantly, making it easy for more people to find out their genetic risks. In the future, genetic testing may become a standard part of health checkups , making it easier to realize medical care tailored to individual constitutions.
(2) Integration of AI and genome analysis
Genome analysis technology using artificial intelligence (AI) is rapidly advancing, and is expected to be applied not only to stroke but also to risk assessment of cancer, heart disease, etc. By using AI, it is possible to identify genetic factors that could not be detected by conventional methods and provide more precise personalized medicine .
(3) Issues with genetic testing for the general public
On the other hand, to correctly understand and properly use the results of genetic testing, it is essential to provide counseling by experts and comprehensive after-sales support . In particular, in Japan, where social understanding of genetic information is still insufficient, education and awareness-raising activities will also be important issues.
Summary
By utilizing genetic testing, it will be possible to scientifically evaluate each individual’s stroke risk and take more effective preventive measures. By optimizing diet, exercise habits, and stress management according to genetic characteristics, the risk of developing stroke will be significantly reduced. Furthermore, the development of personalized medicine using AI and wearable devices is enabling more accurate risk prediction and health management. In the future, the spread of genetic testing and improved social understanding will be the key to preventing stroke.
