1. The relationship between genes and cardiovascular disease
Cardiovascular disease (CVD) is one of the leading causes of death worldwide, and its development is influenced by both genetic and environmental factors . Recent advances in genetics have revealed specific gene mutations that increase the risk of CVD.
(1) Genetic factors and cardiovascular risk
Among the genes that increase the risk of developing cardiovascular disease, the 9p21 locus has attracted particular attention, as mutations in this region have been shown to increase the risk of coronary artery disease (CAD) and stroke.
Representative genes and their effects
Gene
Associated diseases
Influence
9p21 locus
Coronary artery disease, stroke
Accelerates the progression of arteriosclerosis
APOE (apolipoprotein E)
High cholesterol, arteriosclerosis
LDL cholesterol metabolic abnormalities
PCSK9 (protampase PCSK9)
High cholesterol, myocardial infarction
Inhibits the breakdown of LDL cholesterol
LPA (Lipoprotein(a))
arteriosclerosis, thrombosis
Promotes inflammation in blood vessels
Individuals with 9p21 gene mutations are at increased risk of cardiovascular disease, regardless of general lifestyle risks , and therefore require early screening and proactive preventive measures.
(2) Interaction between genes and environmental factors
Genes do not determine disease risk, but rather the risk increases or decreases through interactions with lifestyle and environmental factors . For example, people with the APOE ε4 allele are more likely to have a significant increase in LDL cholesterol when they eat a high-fat diet, but maintaining a proper diet can reduce their risk.
When assessing your risk for cardiovascular disease, both your genes and lifestyle habits must be considered .
2. Risk assessment through genetic testing
(1) Types of genetic testing
Genetic testing is an important tool for assessing the risk of cardiovascular disease and for personalized medicine. The main testing methods include:
SNP analysis (single nucleotide polymorphism): Detecting specific gene mutations and assessing disease risk
Polygenic Risk Score (PRS) : A comprehensive risk assessment based on a combination of multiple genes
Whole-exome sequencing (WES) : Comprehensive analysis of disease-related genetic mutations
These tests make it possible to develop prevention and treatment strategies tailored to each individual’s genetic risk .
(2) Examples of genetic testing
Genetic testing can help you take specific measures, such as:
If you are at high risk , strengthen LDL cholesterol management and check for arteriosclerosis regularly.
Moderate risk → Improve exercise habits, take measures against high blood pressure
If the risk is low , focus on improving your general lifestyle habits.
Taking preventive measures based on individual genetic information can effectively reduce the risk of developing cardiovascular diseases.
3. Preventive measures using genetic information
(1) Dietary risk reduction
People with genetic risk can reduce their risk of disease by following a diet that focuses on certain nutrients.
① Foods that lower LDL cholesterol
Omega-3 fatty acids (oil fish, flaxseed oil)
Soluble fiber (oatmeal, barley, vegetables)
Nuts (almonds, walnuts)
② Foods that control blood pressure
Foods high in potassium (bananas, spinach, beans)
Magnesium-rich foods (nuts, brown rice, seaweed)
It is important to create a meal plan that suits your constitution based on the results of your genetic test.
Exercise is essential for maintaining cardiovascular health, but genetic factors affect the best form of exercise for you.
Genetic types
Examples of recommended exercise
People with the 9p21 risk gene
Aerobic exercise (walking, jogging)
APOE ε4 carriers
Moderate-intensity strength training + endurance exercise
People with LPA mutations
Yoga and stretching to prevent high blood pressure
Optimizing your exercise routine can help minimize your genetic risk.
(3) Medical approach
Individuals who are genetically at high risk for cardiovascular disease should consider lifestyle modifications as well as appropriate medical interventions .
1) Statin therapy
Statins (LDL cholesterol-lowering drugs) are effective for people with PCSK9 gene mutations
② Use of antiplatelet drugs
In some cases, patients with LPA mutations are at higher risk of blood clots, so low-dose aspirin may be recommended.
3) Regular health check-ups
High-risk groups should undergo frequent arteriosclerosis tests and blood pressure checks.
It is important to consider an appropriate medical approach for each individual based on genetic testing.
4. The forefront of genetic research
Genetic research into cardiovascular disease continues to evolve, leading to the development of new treatments and preventative strategies.
Application of CRISPR gene editing technology : Therapy targeting genes involved in LDL cholesterol metabolism
Epigenetics research : Regulation of gene expression through lifestyle changes
Advances in these technologies are making it possible to take effective measures even for people with genetic risks.
5. Genetic risk and epigenetics of cardiovascular disease
Epigenetics (changes in gene expression after birth) plays an important role in the development of cardiovascular disease. It is known that environmental factors such as diet, exercise, and stress management can change the function of genes, even if the genes themselves do not change.
(1) DNA methylation and cardiovascular disease
DNA methylation is one of the major epigenetic modifications that suppress gene expression. Excessive methylation of genes related to atherosclerosis and hypertension may increase cardiovascular risk.
DNA methylation patterns associated with cardiovascular risk
Methylation of the NOS3 gene → Decreased vascular relaxation function
Methylation of the CRP gene → worsening of chronic inflammation
As such, because DNA methylation status determines the progression of cardiovascular disease , it is important to be aware of lifestyle factors that regulate epigenetics.
(2) Preventive measures against cardiovascular disease using epigenetics
① Intake of antioxidant foods
Oxidative stress affects DNA methylation and promotes the progression of arteriosclerosis, so it is recommended to actively consume foods with antioxidant properties .
Vitamin C (citrus fruits, red peppers, broccoli)
Vitamin E (almonds, sunflower seeds, olive oil)
Polyphenols (cacao, green tea, red wine)
② Stress management
Chronic stress is known to increase the secretion of the stress hormone (cortisol) and alter DNA methylation .
Meditation and Mindfulness Practices
Walking in nature (forest bathing)
Being socially connected (with friends and family)
3. Improve your sleep quality
Lack of sleep is known to negatively affect epigenetics and increase the risk of cardiovascular disease .
Get 7-8 hours of sleep every day
Refrain from using smartphones and PCs before going to bed
Create a relaxing environment before bed
Adopting these habits can help protect your cardiovascular health through epigenetic regulation.
6. Personalized medicine and the latest treatments for cardiovascular disease
Advances in genetic analysis technology are helping to develop precision medicine for cardiovascular disease, allowing treatment options based on individual genetic risk, resulting in more effective approaches.
(1) PCSK9 inhibitors and cholesterol management
People with PCSK9 gene mutations are prone to high LDL cholesterol, so PCSK9 inhibitors are considered effective in addition to statins.
Alirocumab (Praluent)
Evolocumab (Repatha)
These drugs have been proven to dramatically lower LDL cholesterol and are an effective option for people who are genetically at high risk for hypercholesterolemia.
(2) New approaches to RNA therapy
In recent years, gene silencing (RNA interference technology) using RNA technology has begun to be applied to the treatment of cardiovascular diseases.
Inclisiran : Inhibits expression of the PCSK9 gene and lowers LDL cholesterol
RNA therapy holds promise as a new means of directly controlling genetic risk .
(3) Gene editing technology (CRISPR)
CRISPR technology has the potential to edit genes and potentially enable the prevention and treatment of cardiovascular disease.
Cholesterol management by modifying the LDLR gene
Reducing chronic inflammation by modulating the CRP gene
Although this technology is not yet at the stage of clinical application, it is thought to have great potential to revolutionize the treatment of cardiovascular disease in the future .
7. Future Issues and Prospects
Although genetic research into cardiovascular disease is progressing rapidly, several challenges remain.
(1) Ethical handling of genetic information
As genetic testing becomes more widespread, issues regarding the protection of personal information and ethical issues are coming to the fore.
Privacy management of genetic information
Preventing discrimination in insurance and employment
Establishing ethical guidelines for gene editing technology
In order to resolve these issues, it is essential to establish international rules .
(2) Promoting public health using genetic information
Health management using genetic information can be applied not only at the individual level but also to public health.
Early identification of high-risk groups and implementation of prevention programs
Optimizing medical policies using genetic information
Promoting personalized preventive medicine to reduce medical costs
It is hoped that by governments and medical institutions proactively utilizing genetic information, the risk of cardiovascular disease can be reduced throughout society .
8. Relationship between genetic risk of cardiovascular disease and lifestyle
Even if you are genetically at high risk for cardiovascular disease, you can significantly reduce your risk by choosing the right lifestyle. It is important to optimize your diet, exercise, and mental health while utilizing your genetic information.
(1) Optimizing diet for each genotype
It is known that the effects of diet vary depending on genotype. For example, it has been reported that differences in the APOE gene affect the efficiency of lipid metabolism, resulting in different changes in cholesterol levels even when consuming the same diet .
① Diet to control LDL cholesterol
APOE ε4 carriers benefit from a low-fat diet
People with PCSK9 mutations should actively consume nuts and omega-3 fatty acids
② Diet to regulate blood pressure
People with the 9p21 mutation have high salt sensitivity, so reducing salt intake is important
Eating foods high in potassium (bananas, spinach, potatoes) helps regulate blood pressure
3. Be aware of foods with anti-inflammatory properties
Fermented foods (yogurt, kimchi) → Improves intestinal function and reduces chronic inflammation
By utilizing genetic information and choosing a diet that suits your constitution, it will be possible to prevent cardiovascular disease more effectively.
(2) The relationship between genes and exercise
Exercise is essential for maintaining cardiovascular health, but different genotypes affect the type and intensity of exercise that is best for you .
Genetic types
Recommended exercise
9p21 mutation present
Endurance exercise (jogging, cycling)
APOE ε4 carriers
Strength training + walking
LPA mutation present
Yoga and stretching improves blood flow
For people who are genetically predisposed to stress, regulating the production of the stress hormone (cortisol) through exercise is especially important .
(3) Stress management and reducing the risk of cardiovascular disease
Chronic stress causes high blood pressure, fluctuations in blood sugar levels, and vascular inflammation , increasing the risk of cardiovascular disease. People who are genetically sensitive to stress need to actively adopt stress management.
1) Meditation and mindfulness
Reduces stress hormones and activates the parasympathetic nervous system
Practice meditation and deep breathing for 10 to 15 minutes a day.
② Ensuring good quality sleep
Get 7-8 hours of sleep every night
Avoid blue light (smartphones and PCs) before going to bed
3) Utilizing social support
Value communication with family and friends
Use of counseling and support groups
Taking care of your mental health is crucial to reducing your risk of cardiovascular disease .
9. Personalized healthcare using genetic information
In modern medicine, personalized medicine (precision medicine) that utilizes genetic information is evolving , bringing about major changes in the prevention and treatment of cardiovascular disease.
(1) Optimization of treatment based on genetic analysis
Utilizing genetic information makes it possible to develop “pharmacogenomics,” which allows for the selection of the most appropriate drug for each patient.
1. Genetic prediction of statin effects
If you have a CYP3A4 gene mutation, you may metabolize statins more slowly, increasing your risk of side effects.
Statins may be less effective in people with SLCO1B1 mutations
② Appropriate selection of antiplatelet drugs
Differences in the CYP2C19 gene affect the effectiveness of clopidogrel (a blood-thinning drug)
If it becomes possible to select drugs based on individual genetic information, more effective treatments with fewer side effects can be achieved.
(2) Preventive medicine using AI and genetic data
By utilizing AI technology, systems are being developed that analyze individual genetic information and lifestyle data to predict the risk of developing cardiovascular disease .
Risk score that combines genetic, blood test and lifestyle data
AI suggests individual diet and exercise programs
Link with your smartwatch to monitor your health in real time
These technological advances will make it possible for people at high risk to take effective preventive measures .
10. Genetic Information and the Future of Public Health
Understanding the genetic risk of cardiovascular disease and taking early preventive measures can also lead to reduced medical costs and a longer healthy lifespan .
(1) The spread of genetic screening
In the future, it may become common for everyone to undergo genetic testing at a young age and receive risk-specific lifestyle guidance .
Disease prevention through early detection and early intervention
Personalized health management according to individual risks
(2) Strengthening health education
It is important to correctly understand genetic information and spread health habits based on scientific evidence .
Education to avoid misinterpretation of genetic test results
Promoting the provision of information that is easy for the general public to understand
Utilizing genetic information will contribute to improving health not only at the individual level, but also at the society level as a whole.
11. Societal Initiatives to Reduce the Risk of Cardiovascular Disease
The prevention and management of cardiovascular disease requires not only individual efforts but also efforts by the entire society. By utilizing genetic information and approaching the issue from the perspectives of public health, medicine, and policy, more effective prevention will be possible.
(1) Health check program using genetic information
Many countries are seeking to improve the accuracy of health checkups for the early detection and prevention of cardiovascular disease. In particular, personalized health checkups using genetic testing are attracting attention.
1) Introduction of genetic screening
Early identification of people with high-risk genes and appropriate intervention
Prioritizing screening for those with a family history
Introducing genetic testing into corporate and local health programs
② Individualized health guidance
A program is being developed in which doctors and nutritionists provide individual health guidance based on genetic information .
People with a genetically high risk of hypercholesterolemia → LDL cholesterol management program
Those at genetic risk for hypertension → Salt management and blood pressure monitoring guidance
People at high risk of diabetes → Diet and exercise guidance to improve insulin sensitivity
This allows us to provide preventative programs tailored to each individual’s constitution .
(2) Optimizing regional medical care using genetic data
By utilizing genetic information at the local level, it will be possible to understand disease risks in each region and allocate medical resources appropriately .
1) Creating a risk map for each region
Combining genetic and health check data to map regional cardiovascular disease risk
Specific medical resources will be concentrated in high-risk areas.
2) Strengthening preventive medicine
Conducting health seminars tailored to the characteristics of each region
Introduction of a health management system using a smartphone app
Offering free genetic testing programs to raise risk awareness
It is expected that these efforts will reduce regional health disparities and lower the incidence of cardiovascular disease .
12. Cardiovascular disease risk management and the latest technology
(1) Integration of wearable devices and genetic information
In recent years, smartwatches and wearable devices have evolved to help manage cardiovascular health .
1. Monitoring heart rate, blood pressure, and blood oxygen concentration
Apple Watch and Fitbit → Detect heart rate and arrhythmia, and notify if there is an abnormality
Device with electrocardiogram function → Detects signs of arrhythmia and myocardial infarction
② Risk assessment integrated with genetic data
Health management combining genetic risk and real-time biological information
AI analyzes individual data and sends alerts when risks increase
In the future, it is highly likely that personalized health management based on genetic information will become a part of everyday life via smart devices .
(2) AI-based diagnosis and preventive medicine
Health management systems that utilize AI are emerging, and technology is evolving to analyze individual genetic risks and lifestyles and propose optimal health strategies .
1. Risk scoring using AI
Combining genetic data, lifestyle habits, and medical history to predict cardiovascular disease risk
Propose optimal prevention plans based on risk scores
② Online medical consultations by AI doctors
Providing appropriate medical care based on genetic information and real-time health data
AI supports early disease detection and lifestyle improvement guidance
These technological advances will accelerate “personalized medicine” that utilizes genetic data, enabling more precise prevention and diagnosis .
13. Future strategies for preventing cardiovascular disease
It is expected that the prevention of cardiovascular disease using genetic information will continue to develop in the future.
(1) Standardization of preventive medicine
Incorporating genetic testing as part of general health checks
Individualized prevention programs for people at high risk of cardiovascular disease
(2) Clinical application of gene editing technology (CRISPR)
Technology developed to modify genetic risk of LDL cholesterol at the gene level
Expanding the possibility of treating cardiovascular disease before it develops
(3) Early screening for cardiovascular disease risk
Newborn genetic screening to identify lifelong risks early
Lifestyle education begins in childhood to prevent the onset of diseases
14. Future challenges in cardiovascular disease and genetic research
Preventing cardiovascular disease using genetic information holds great promise, but several challenges remain.
(1) Privacy and Data Protection Issues
Strict privacy protection is necessary to prevent genetic information from being misused
Ensure data security and prevent personal genetic information from being leaked
(2) Cost and access issues
Genetic testing is expensive and not accessible to everyone
Discussion is needed on the extent to which genetic testing should be covered within the public healthcare system
(3) Ethical issues
Discussion is needed on the extent to which gene editing technology should be permitted
Legislation to prevent “discrimination based on genetic information” is needed
It is expected that as these issues are resolved, the prevention and treatment of cardiovascular disease using genetic information will continue to evolve .
Summary
Genetic and environmental factors are intricately involved in the development of cardiovascular disease, and recent advances in genetic research have expanded the options for risk assessment and prevention. Genetic testing makes it possible to develop dietary, exercise, and medical strategies suited to each individual’s constitution, and real-time health management is also becoming a reality through integration with AI and wearable devices. In the future, personalized medicine using genetic information is expected to continue to develop while overcoming ethical issues and improving public health.
Personalized medicine using genetic information will become even more important in the prevention and management of cardiovascular disease. Early identification of genetic risks and selection of appropriate lifestyle and treatments can prevent the onset of disease. In particular, more effective health management can be achieved by tailoring diet, exercise, stress management, and drug selection to individual genetic characteristics. In the future, as genetic research continues to advance, it is expected that genetic data will also be used in public health and medical policies, contributing to improving the health of society as a whole.
