近年のゲノムワイド関連解析（GWAS）では、心疾患に関連する多くの遺伝子が特定されており、特定の遺伝子変異が心疾患リスクを高めることが明らかになっています（Khera et al., 2018）。特に、LDLR、APOB、PCSK9 などの遺伝子変異はコレステロール代謝に影響を与え、動脈硬化や心筋梗塞のリスクを高めます。
基因检测是评估心脏病风险并实施个体化优化预防措施的有力工具。低密度脂蛋白受体 (LDLR)、载脂蛋白 E (APOE) 和血管紧张素转换酶 (ACE) 等基因与心脏病有关，通过合理的饮食、运动和医疗管理相结合可以降低风险。此外，与人工智能 (AI) 和可穿戴设备的结合，使实时健康管理成为可能。未来，利用基因信息的个性化医疗有望进一步发展，心脏病预防的准确性也将提高。
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Posted on 2024年 12月 6日
In recent years, advances in genetic testing have made it possible to assess the risk of developing heart disease in advance and take preventive measures. In particular, for heart diseases that involve genetic factors such as familial hypercholesterolemia, arrhythmia, and coronary artery disease, the use of genetic information allows for more precise risk assessment and personalized prevention. This article provides a detailed explanation of heart disease risk assessment using genetic testing and preventive measures based on this.
1. The relationship between heart disease and genetics
While lifestyle and environmental factors play a major role in heart disease, genetic factors also play an important role . For example, it is known that if a parent has heart disease, the child is at higher risk of developing the same disease.
Recent genome-wide association studies (GWAS) have identified many genes related to heart disease, and it has become clear that certain gene mutations increase the risk of heart disease (Khera et al., 2018). In particular, gene mutations such as LDLR, APOB, and PCSK9 affect cholesterol metabolism and increase the risk of atherosclerosis and myocardial infarction.
2. Genes that increase the risk of heart disease
(1) Familial hypercholesterolemia (FH) and the LDLR gene
Familial hypercholesterolemia (FH) is a genetic disease in which LDL (bad) cholesterol levels are extremely high. It is caused by mutations in the LDLR gene, APOB gene, and PCSK9 gene, and significantly increases the risk of arteriosclerosis and coronary artery disease.
Genetic mutations and their effects
LDLR gene mutation : Decreased function of LDL receptors → Cholesterol accumulates in the blood
APOB gene mutation : LDL is not broken down properly, resulting in high blood levels
PCSK9 gene mutation : Degradation of LDL receptors is promoted, making it difficult for LDL to decrease
Prevention and Control
Monitor your LDL cholesterol levels with regular blood tests
Appropriate use of statins and other lipid-lowering drugs
Assess risk through genetic testing and encourage family members to be tested
Congenital long QT syndrome (LQTS) is known to be a genetically-related arrhythmia that can lead to sudden death and is caused by mutations in genes such as KCNQ1, KCNH2, and SCN5A (Schwartz et al., 2013).
Genetic mutations and their effects
KCNQ1 gene mutation : Heart rhythm disorders due to potassium channel abnormalities
SCN5A gene mutation : Abnormal electrical signals occur due to abnormal sodium channels
Prevention and Control
Get regular electrocardiograms (ECGs)
Stabilizing heart rate with beta-blockers
In severe cases, the introduction of pacemakers and implantable cardioverter defibrillators (ICDs)
(3) Coronary artery disease (CAD) and the 9p21 gene
Coronary Artery Disease (CAD) is the main cause of myocardial infarction, and mutations in the 9p21 gene are known to increase the risk of CAD. The 9p21 region is associated with the progression of arteriosclerosis, and people with risk alleles have a 1.3-fold increased risk of developing CAD (Helgadottir et al., 2007).
Prevention and Control
Thoroughly manage LDL cholesterol and blood pressure
Follow a heart-healthy diet, such as the Mediterranean diet
Maintain vascular health with regular exercise and stress management
3. Prevention and future of heart disease through genetic testing
(1) Early risk assessment and personalized medicine
By utilizing genetic testing, it becomes possible to take preventive measures that take into account individual genetic risks in addition to traditional risk assessments (blood pressure, cholesterol levels, BMI, etc.) . For example, patients with familial hypercholesterolemia can significantly reduce their risk of developing heart disease by starting statin treatment at a young age.
(2) Improving lifestyles using genetic information
Based on the results of genetic testing, nutritional and exercise plans can be tailored to suit your individual needs . For example, it has been shown that people with PCSK9 mutations should limit their intake of saturated fats and follow a diet rich in nuts and omega-3 fatty acids .
(3) Gene therapy and future prospects
With the development of gene editing technologies such as CRISPR-Cas9, it may be possible to develop treatments that fundamentally reduce the risk of heart disease in the future . For example, gene therapy that improves the function of the LDLR gene is being researched, and if this is realized, patients with familial hypercholesterolemia may not need to take medication for the rest of their lives.
4. Latest research into preventive medicine using genetic testing
Genetic testing does not simply assess the risk of disease, but also contributes to the realization of individually optimized preventive medicine. In particular, early detection of genetic mutations that increase the risk of heart disease makes it possible to prevent the onset of the disease by improving lifestyle habits and taking appropriate drug therapy.
(1) Assessment of cardiovascular disease risk using polygenic risk scores (PRS)
Traditional genetic testing focuses on specific gene mutations (monogenic diseases), but recent studies have demonstrated that a combination of multiple genes (polygenic risk scores, PRS) can provide a more precise risk assessment (Inouye et al., 2018).
Polygenic risk scores (PRS) are a method for quantifying individual disease risks by statistically analyzing the effects of hundreds to thousands of gene mutations. This may enable the identification of cardiovascular disease risks that would have been overlooked by conventional risk factors.
Benefits of Polygenic Risk Scores
It can more accurately predict the risk of developing myocardial infarction or stroke
It can also be applied to risk assessment for young people, enabling early prevention measures.
Customized treatment combining genetic information and lifestyle habits becomes a reality
(2) Drug selection using genetic information (pharmacogenomics)
Pharmacogenomics has been attracting attention as an approach to selecting the most appropriate drug for each patient in the treatment of cardiac diseases. It is known that certain genetic mutations affect the metabolism and efficacy of drugs.
CYP2C19 gene and antiplatelet drugs (clopidogrel）
Certain mutations in the CYP2C19 gene make clopidogrel (Plavix) less effective
Genetic testing may recommend alternative drugs (ticagrelor, prasugrel)
SLCO1B1 gene and statins (drugs for treating dyslipidemia)
People with SLCO1B1 gene mutations are at higher risk of statin-induced muscle damage (rhabdomyolysis)
Select low-risk statins (such as rosuvastatin) through genetic testing
In this way, by utilizing genetic information, it is possible to select the most appropriate drug for each patient, maximizing the therapeutic effect while avoiding side effects (Mega et al., 2015).
5. Relationship between lifestyle changes and genes for preventing heart disease
If you learn your risk of heart disease through genetic testing, it is important to adjust your lifestyle based on the results. In particular, optimizing your diet, exercise, and stress management in combination with genetic factors can lead to more effective prevention of heart disease.
(1) Dietary strategies according to genotype
We know that genetic differences affect how certain foods affect cardiovascular risk.
The APOE gene and lipid metabolism
People with APOE4 are more likely to have elevated LDL cholesterol levels due to the intake of saturated fatty acids, so a low-fat, high-fiber diet is recommended.
People with APOE3 and APOE2 types are less affected by lipid metabolism
The FTO gene and obesity risk
People with a variant of the FTO gene metabolize fat more slowly and are more likely to gain weight on a high-fat diet.
Low-carb, high-protein diet may reduce risk of obesity and arteriosclerosis
(2) Exercise plan to reduce the risk of heart disease
By utilizing genetic information, it will be possible to select exercise methods that suit each individual’s constitution.
The ACE Gene and Endurance vs. Strength Training
People with ACE type I have a high cardiovascular risk reduction effect from aerobic exercise (jogging, cycling)
People with ACE type D can expect to reduce their cardiovascular risk through resistance training (muscle training).
The PPARGC1A gene and energy metabolism
People with high PPARGC1A activity have strong mitochondrial function and aerobic exercise is effective
Low activity individuals are encouraged to maintain cardiovascular fitness with interval training (HIIT)
(3) Stress management and mental health
Stress is a major factor that increases the risk of heart disease, but it is known that people’s sensitivity to stress varies genetically.
COMT gene and stress resistance
People with high activity tend to be more resistant to stress and more adaptable to short-term stress.
People with low activity are vulnerable to chronic stress, and excessive sympathetic nervous activity increases the risk of heart disease, so mindfulness and yoga are recommended.
6. Integration of genetic information and digital health
It is expected that in the future, technology will develop that will integrate genetic test results with wearable devices and smartphone apps to enable real-time health management.
Providing customized health advice based on genetic information
AI analyzes heart rate, blood pressure, and blood sugar data to suggest individually optimized exercise and nutrition plans
Medication alerts based on genetic risk and online consultations with doctors
In this way, combining genetic information with digital health will enable more effective prevention of heart disease.
7. Examples of Genetic Testing and Personalized Medicine
By utilizing genetic testing, it becomes possible to select preventive measures and treatment methods that are suited to each individual’s constitution. Here, we will introduce some examples of how genetic testing is used in actual medical settings.
(1) Early detection and treatment of familial hypercholesterolemia (FH)
Case study: A man in his 40s
Mutations in the LDLR gene are discovered through genetic testing
LDL cholesterol level is over 300 mg/dL and arteriosclerosis is progressing
Initiate statin therapy in combination with dietary modification and exercise
After six months, LDL levels were closer to the normal range, lowering the risk of heart disease
In this way, genetic testing can identify risks that may be missed through traditional health checks, allowing for early therapeutic intervention (Nordestgaard et al., 2013).
(2) Management of athletes at risk of arrhythmia
Case study: A professional cyclist in his 20s
The patient was found to have a mutation in the KCNQ1 gene, which puts him at high risk for congenital long QT syndrome (LQTS).
Training plan changed due to risk of sudden death from strenuous exercise
Transition to endurance training with heart rate kept in a certain range
Regular electrocardiogram tests and beta-blocker prescriptions allow athletes to continue playing safely
In this way, genetic information can be used to enable high-risk athletes to continue playing sports under appropriate management (Schwartz et al., 2013).
8. Limitations and challenges of genetic testing
Although genetic testing is useful for assessing heart disease risk, it also presents some challenges.
(1) Interaction with environmental factors
Genes only partially determine disease risk; environmental factors such as diet, exercise, and stress management also play a major role. For example, it has been shown that even people with the 9p21 gene mutation can reduce their risk by maintaining a healthy lifestyle (Helgadottir et al., 2007).
(2) Ethical issues regarding genetic testing
Protecting the privacy of genetic information is an important issue. There is a risk that insurance companies and employers may use genetic information inappropriately, so appropriate legal regulations are required. In the United States, the Genetic Information Nondiscrimination Act (GINA) has been enacted, which restricts the use of genetic information in employment and insurance.
(3) Gene editing technology and ethical debate
Advances in CRISPR-Cas9 technology may one day make it possible to modify genes that confer risk for heart disease, but careful discussion is needed about the extent to which gene editing is ethically acceptable.
9. Preventing future heart disease using genetic information
(1) Personalized medicine using AI and big data
Advances in AI technology have made it possible to make risk predictions that integrate genetic information, health checkup data, and lifestyle data.
AI-based genetic data analysis
Analyzing hundreds of thousands to millions of pieces of genetic data to propose optimal preventive measures for each individual
Evaluates heart disease risk in real time and provides advice on lifestyle improvements
Integration with wearable devices
Link with smartwatches and heart rate monitors to analyze fluctuations in heart rate and blood pressure
Supports optimization of exercise and diet while taking into account genetic risk
This could potentially lead to fully personalized medicine that combines genetic information with real-time biometric data.
Currently, gene therapy is being applied to some hereditary diseases, and it is believed that in the future, gene therapy for reducing the risk of heart disease will also be developed.
PCSK9 gene therapy: Gene therapy to lower LDL cholesterol under study
As these technologies advance, we may see a future in which it is possible to prevent heart disease at the genetic level.
10. Self-care and behavioral guidelines using genetic testing
We will introduce heart disease prevention measures that can be implemented in everyday life using the results of genetic testing.
(1) For people at low risk (prevention approach)
Get regular health checkups and manage your blood pressure and cholesterol levels
Eat a balanced diet (Mediterranean or DASH diet)
Engage in moderate exercise for at least 150 minutes per week
(2) For people at high genetic risk (active prevention)
Consider taking a lipid-lowering medication to control LDL cholesterol
Regular electrocardiogram and arteriosclerosis tests
Strengthen stress management and acquire habits to regulate the autonomic nervous system
By utilizing genetic testing, it is possible to identify the risk of heart disease at an early stage and take appropriate preventive measures. It is expected that advances in technology will lead to more individually optimized heart disease prevention in the future.
11. Specific approaches to improving lifestyle habits using genetic information
We will explain in detail how the information obtained through genetic testing can be used in everyday life and specific ways to improve your lifestyle habits.
(1) Optimizing nutritional management
Your genes affect how efficiently you metabolize and need certain nutrients, so by using your genetic test results to create an appropriate diet plan, you can lower your risk of heart disease.
1. Cholesterol and lipid metabolism
People with LDLR gene mutations: A diet low in saturated fats and high in omega-3 fatty acids (oil-filled fish, flaxseed oil, walnuts, etc.) is recommended.
People with the APOE4 gene: High risk of arteriosclerosis, so a low-fat, high-fiber diet is recommended
② Carbohydrates and blood sugar management
People with TCF7L2 gene mutations: They have low insulin sensitivity and a high risk of diabetes, so they should mainly eat low GI foods (brown rice, whole wheat bread).
People with FABP2 gene mutations: They have low lipid metabolism, so they should avoid high-fat foods and eat a carbohydrate-rich diet.
3) Salt sensitivity and risk of hypertension
People with AGT gene mutations: High salt sensitivity, and blood pressure can be easily controlled by reducing sodium intake (actively consuming foods high in potassium)
Genes affect how easily you develop endurance and muscle strength. Let’s create a plan that utilizes genetic information to develop effective exercise habits while reducing the risk of heart disease.
① Exercise to improve endurance
People with ACE type I (easy to improve endurance): Mainly do aerobic exercise such as jogging and cycling.
People with high PPARGC1A activity: Zone 2 training (low intensity, long-term exercise) is recommended to promote the increase of mitochondria.
② Suitability for strength training
ACTN3 RR type (fast-twitch muscle type): Expected to improve muscle strength through weight training and sprint exercise
ACTN3 XX type (slow-twitch muscle type): Long-term training is effective for improving muscle endurance
3) Blood pressure control through exercise
People with AGTR1 gene mutations (prone to high blood pressure): Exercises that calm the sympathetic nervous system, such as yoga and pilates, are suitable
People with NOS3 gene mutations (low vasodilation ability): Walking and swimming are recommended to improve vascular function.
12. Latest technology in genetic testing and future prospects
(1) Whole-genome analysis and AI-based prediction technology
Conventional genetic testing only analyzed specific gene mutations, but in recent years, whole genome sequencing (WGS) has become possible, allowing for more detailed risk assessment.
Conventional method (specific gene analysis): Analyzes only specific disease risk genes
Whole-genome sequencing (WGS): Analyzing millions of genetic mutations to comprehensively assess disease risk
In addition, AI is being used to develop predictive models that combine past clinical data, enabling comprehensive risk assessment that takes into account not only genetic information but also lifestyle and environmental factors.
(2) Integration of genetic testing and digital health
Recently, systems have emerged that link genetic test results with smartphone apps, allowing for real-time health management.
Providing customized health plans based on genetic risk (diet, exercise, stress management)
Linking with wearable devices to analyze heart rate and blood pressure data
If an abnormality is detected, a doctor can be contacted immediately.
With these technological advances, personalized, optimized medical care based on genetic information is becoming a reality on a daily basis.
(1) Correct interpretation of genetic information is necessary
The results of a genetic test are merely one part of a risk assessment and do not necessarily mean that you will develop a disease. Even if you are at high genetic risk, it is possible to prevent the disease by maintaining an appropriate lifestyle.
(2) Protecting the privacy of genetic information
Since genetic information is very sensitive data, it is important to manage it appropriately. In particular, care must be taken when sharing genetic data with third parties.
(3) Use information that is based on scientific evidence
There are genetic testing services on the market that lack sufficient scientific evidence, so it is important to choose tests provided by reliable research institutions or medical institutions.
14. Future medical care using genetic testing
It is expected that the field of heart disease prevention and treatment using genetic information will continue to develop in the future.
Development of more precise polygenic risk scores
Real-time health management through integration with AI
Fundamental reduction in disease risk through advances in gene therapy technology
Genetic testing will increasingly play a central role in personalized medicine, and it is expected that in the future it will become possible to provide optimal health management based on each individual’s genetic characteristics.
15. A practical guide to preventing heart disease using genetic testing
Here’s an easy-to-follow guide on how to use genetic testing and implement specific preventative measures to reduce your risk of heart disease.
(1) How to take a genetic test and how to use the results
① Choose a reliable genetic testing service It is important to use a reliable medical institution or licensed testing company for genetic testing. In particular, by choosing an institution that offers genetic panel testing specialized in evaluating the risk of heart disease, you can obtain more accurate results.
② Utilize the test results in consultation with your doctor It is important not to interpret the genetic test results alone, but to consult with a doctor or genetic counselor and combine them with the results of a comprehensive health check to evaluate risks.
If you are at high genetic risk, lifestyle changes are especially important:
Cholesterol management (LDLR and APOE genes are involved)
Limit saturated fats and increase your intake of omega-3 fatty acids (fish, nuts)
Include foods rich in plant sterols (legumes, whole grains)
Blood pressure control (related to AGT and NOS3 genes)
Be mindful of reducing salt intake and consume vegetables and fruits that are high in potassium
Implement meditation and deep breathing exercises to reduce stress.
② Conduct regular health checks
Receive electrocardiograms and arteriosclerosis tests at least once a year
People at genetic risk should regularly check their LDL cholesterol and blood pressure
3) Consider drug therapy in consultation with your doctor
Appropriate use of statins (anti-lipidemic drugs) and antiplatelet drugs
Blood pressure control with beta-blockers and calcium antagonists
By utilizing genetic information, it will be possible to implement more individualized preventive measures and reduce the risk of heart disease. With future research and technological advances, we can expect to see even more precise personalized medicine.
Summary
Genetic testing is a powerful tool for assessing the risk of heart disease and implementing individually optimized preventive measures. Genes such as LDLR, APOE, and ACE are involved in heart disease, and the risk can be reduced by combining appropriate diet, exercise, and medical management. In addition, integration with AI and wearable devices is making real-time health management possible. In the future, it is expected that personalized medicine using genetic information will further develop and the accuracy of heart disease prevention will improve.
