Cardiovascular Risk and DNA: What Information a Genetic Test Adds to Laboratory Test Results

Blood pressure, blood lipid levels, and ECG results show the state of the cardiovascular system at the time of the examination. But with identical or similar values of these markers, different people can have different long-term risk: standard examinations do not show all the factors that influence it.

It results from the combined effect of numerous genetic variants, each of which usually has a small effect, but together they determine an individual's level of risk. These variants are present from birth and do not change throughout life — and this is exactly what a genetic test evaluates.

Genetic Predisposition and Current Health Markers

Laboratory and instrumental methods assess the body's condition at a specific point in time. Blood pressure, cholesterol, glucose, or C-reactive protein levels change under the influence of age, diet, physical activity, medications, and acute conditions. The same applies to instrumental examinations: an ECG records the heart's electrical activity during the test, and echocardiography assesses its structure and function at the time of the examination.

A genetic result does not show any of these current values. For most cardiovascular conditions, the genetic contribution is spread across a large number of DNA variants, each with a small effect. A single variant does not determine the overall picture. Such variants are combined into a single indicator — polygenic risk score (PRS), which reflects a person's relative position for a given trait compared with a reference population (Slunecka et al., Hum. Genom., 2021).

Genetic Architecture of Cardiovascular Risk

Genetic variants associated with cardiovascular risk relate to biological processes such as blood pressure regulation, lipid metabolism and atherosclerosis, the electrical activity and structural properties of the heart, as well as certain inflammatory processes. In the Apixmed Prism report, these data combine two types of analysis: polygenic scores take into account the combined contribution of many variants at once, while individual polymorphisms are analyzed one by one: for each, the function of the gene and its link to a particular trait or biological process are known.

AGT (angiotensinogen) and AGTR1 (angiotensin II receptor) are associated with components of the renin-angiotensin system, which is involved in blood pressure regulation. In a prospective study with a five-year follow-up, variants of these genes were associated with higher systolic and diastolic blood pressure and a higher likelihood of hypertension (Chaimati et al., Risk Manag. Healthc. Policy, 2023). For more on the genetic component of blood pressure, see the article Hypertension and Genetics: Why the DASH Diet Doesn't Help Everyone.

PCSK9 encodes a protein that regulates the number of low-density lipoprotein (LDL) receptors on the surface of liver cells. Variants of this gene are associated with LDL cholesterol levels and a predisposition to atherosclerosis (Coggi et al., Open Heart, 2025).

APOE is involved in lipid transport and is associated with subclinical atherosclerosis. In a study of more than 4,000 middle-aged people, carriers of the ε4 variant had a higher, and carriers of the ε2 variant a lower, likelihood of subclinical atherosclerosis (Toribio-Fernández et al., Circ. Res., 2024). For more on the genetic context of cholesterol, see the article Normal Cholesterol, but There Is Still a Risk: What DNA Shows.

LPA is involved in the synthesis of apolipoprotein(a); variants of this gene are associated with the atherosclerotic process and aortic stenosis (Kronenberg et al., Eur. Heart J., 2022).

IL6R encodes the interleukin-6 receptor, which is involved in regulating the inflammatory response. In a Mendelian randomization study, variants in the region of this gene were associated with a lower likelihood of coronary heart disease and differences in certain inflammation markers (Cupido et al., Br. J. Clin. Pharmacol., 2022).

Genetic Information When Working with a Cardiologist

When it comes to a family history of cardiovascular disease, the genetic context is especially relevant: genetic test results provide data for an informed conversation with a cardiologist and help determine which components of risk are worth monitoring more closely.

Analysis of the genetic profile is also useful when known risk factors — high blood pressure, high cholesterol, smoking, excess weight — do not explain the overall level of risk. A genetic profile does not replace the assessment of risk factors, but it shows the hereditary component of this risk and gives the doctor a basis for prioritizing areas of prevention.

Genetic test results, like the results of laboratory and instrumental examinations, are not a basis for self-diagnosis or self-medication. The need for specific actions and additional examinations is determined by a doctor, taking into account the medical history, symptoms, laboratory values, genetic and other clinical data.

How to Interpret a Genetic Result Together with Current Markers

Genetic predisposition is not a diagnosis. The result for each marker describes probability relative to a reference population: even at a high percentile, the absolute risk for a specific person depends on blood pressure, cholesterol concentration, smoking, body weight, physical activity, comorbidities, and age.

An elevated genetic predisposition for a particular marker does not mean that its current value deviates or will deviate from established norms. Likewise, a predisposition to vascular changes does not mean they have already occurred.

Assessing blood pressure, lipid metabolism, heart rhythm, and vascular condition usually requires several separate examinations, each of which addresses one area and needs to be repeated over time. A genetic test determines predisposition across the same areas from a single DNA sample, which only needs to be provided once. A doctor who has both kinds of data can set prevention priorities more accurately.

To find out which genetic features are linked to your cardiovascular profile → Genetic Test “Cardiovascular Health”.

Frequently Asked Questions

How Does a Genetic Test for the Heart Differ from a Cardiac Examination?

A cardiac examination — blood pressure measurement, ECG, lipid panel, vascular imaging — shows the state of the cardiovascular system right now. A genetic test does not show such a state: it describes statistical associations between DNA variants and markers established in population studies.

Can a Genetic Test Determine Whether I Have a Cardiovascular Disease?

A genetic test assesses hereditary predisposition and does not establish a diagnosis. The presence of a disease is determined by clinical, laboratory, and instrumental examinations. Rare hereditary cardiac syndromes are diagnosed by separate medical genetic testing prescribed by a doctor.

Genetic test results are not a diagnosis and not a substitute for a doctor's consultation. The Apixmed Prism report provides genetic context that complements examination results and helps you make decisions together with your doctor.

Sources

1. Slunecka, J. L., van der Zee, M. D., Beck, J. J., Johnson, B. N., Finnicum, C. T., Pool, R., Hottenga, J.-J., de Geus, E. J. C., & Ehli, E. A. (2021). Implementation and implications for polygenic risk scores in healthcare. Human Genomics, 15(1), 46. https://doi.org/10.1186/s40246-021-00339-y

2. Chaimati, S., Shantavasinkul, P. C., Sritara, P., & Sirivarasai, J. (2023). Effects of AGT and AGTR1 genetic polymorphisms and changes in blood pressure over a five-year follow-up. Risk Management and Healthcare Policy, 16, 2931–2942. https://doi.org/10.2147/RMHP.S442983

3. Coggi, D., Ward, J., Macchi, C., Gigante, B., Amato, M., et al. (2025). PCSK9 genetic variants, carotid atherosclerosis and vascular remodelling. Open Heart, 12. https://doi.org/10.1136/openhrt-2025-003348

4. Toribio-Fernández, R., Tristão-Pereira, C., Silla-Castro, J. C., et al., Cortés-Canteli, M., & Fuster, V. (2024). Apolipoprotein E-ε2 and resistance to atherosclerosis in midlife: The PESA observational study. Circulation Research, 134(4), 411–424. https://doi.org/10.1161/CIRCRESAHA.123.323921

5. Kronenberg, F., Mora, S., Stroes, E. S. G., et al. (2022). Lipoprotein(a) in atherosclerotic cardiovascular disease and aortic stenosis: A European Atherosclerosis Society consensus statement. European Heart Journal, 43(39), 3925–3946. https://doi.org/10.1093/eurheartj/ehac361

6. Cupido, A. J., Asselbergs, F. W., Natarajan, P., et al. (2022). Dissecting the IL-6 pathway in cardiometabolic disease: A Mendelian randomization study on both IL6 and IL6R. British Journal of Clinical Pharmacology, 88(6), 2875–2884. https://doi.org/10.1111/bcp.15191