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Genomics and Heart Disease


We all have health concerns for ourselves and our family and heart disease should be at the top of everyone’s list. In the US, It is the number one cause of death across all sexes, age groups and most ethnicities.


Below are statistics from the CDC as of December 2019.

  • One person dies every 37 seconds in the United States from cardiovascular disease.

  • About 647,000 Americans die from heart disease each year—that’s 1 in every 4 deaths.

  • Heart disease costs the United States about $219 billion each year from 2014 to 2015. This includes the cost of health care services, medicines, and lost productivity due to death.

Coronary Artery Disease (CAD)

  • Coronary heart disease is the most common type of heart disease, killing 365,914 people in 2017.

  • About 18.2 million adults age 20 and older have CAD (about 6.7%).

  • About 2 in 10 deaths from CAD happen in adults less than 65 years old.

Heart Attack

  • In the United States, someone has a heart attack every 40 seconds.

  • Every year, about 805,000 Americans have a heart attack. Of these,

    • 605,000 are a first heart attack

    • 200,000 happen to people who have already had a heart attack3

    • About 1 in 5 heart attacks is silent—the damage is done, but the person is not aware of it.

Evaluating Your Risks


There are many valuable blood markers that can highlight your risk for heart disease which I routinely check. These include the following: homocysteine, fibrinogen, ADMA/SDMA, HgbA1c, fasting insulin, hsCRP, GGT, CBC, blood chemistry, RBC Magnesium, Ferritin, Vitamin D and etc.  There is a long list of labs tests that I use to determine a patient’s current risk of heart disease.


But just as important as knowing your current risk of heart disease via blood work is knowing your preventable risks. Blood test can help and are necessary but are not definitive. Genomics looks at your potential risks that unless modified may lead to a heart attack or stroke.


Epidemiological studies report the most common risk factors for heart disease. Most of you know these such as diabetes, obesity, unhealthy diet, physical inactivity and excessive alcohol use.


But the most important question you need to ask is do you know YOUR risk? There are many individuals who are not overweight, eat healthy, exercise and still die of a sudden heart attack. Below is a case study to further show how genetics can provide you with true prevention.





36-year-old professional with no known family history of heart disease but due to his stressful job is concerned about his risks. He practices yoga and meditation to help decrease his stress and runs 3 days a week. He eats pretty healthy and avoids gluten due to some previous gut issues. His LDL cholesterol is slightly elevated at 140 and his family physician felt that he did not need a statin. All of his other lab markers are within the optimal range for health.


His genomic panel follows.

Note that homozygous means a risk allele from both parents and heterozygous is one risk allele. If red, there is a higher threat of disease with the risk allele. Listed below the gene is the % of the population that has the same risk. This is also noted in the genomic panel next to the small pie chart.

CDKN2A Cardiac.png
ICAM Cardiac.png
IL1B Cardiac.png
COMT Cardiac.png

No risk for Lp(a).


Lp(a) is important to know as it is proinflammatory and prevents the breakdown of clots.


This SNP is associated with an increase in cardiac disease.

23.6% of the population has 2 risk genes.

He is homozygous meaning he inherited a risk from both his parents for the CDKN2A/2B gene.


This is also called the 9p21 in the literature or the ‘heart attack’ gene. He has double the risk for an MI.


The CDKN2A gene increases calcification of the arteries and associated with an increased risk of premature heart disease.

It is actually common with 23.6% of the population carrying 2 copies of this gene.

19% of the population has 2 risk genes.

ICAM is the gene most associated with plaque formation.


Having only 1 copy of this gene increases the risk of a heart attack and he has two copies.


This risk gene is increased with an IL1B. See below. IL1B is an inflammatory gene. Increasing inflammation within the plaque formation.

Not as common as the CDKN2A/2B but not rare.

IL1B is part of the IL1's which are a superfamily of inflammatory molecules.


An overactive IL1B can increase the threat of plaque rupture and myocardial injury. Having this variation along with the ICAM1 increases the risk of plaque rupture due to increased inflammation.

IL1B associated with an increase in global inflammation and also increases the risk Alzheimer's disease and cancer.

Having 2 copies is not very common.

12.2% of the population has 2 risk genes.

The COMT gene is associated with the ability to break down stress hormones. He has 2 risk gene making it difficult to break down adrenaline once activated.


With stress, he is at an increased risk of an acute coronary event due to his increased levels of circulating catecholamines. (Epinephrine, norepinephrine and dopamine).

Stress can potentially lead to a heart attack in these individuals and 25% of the population carry this risk. 

25% of the population has 2 risk genes.

The genes highlighted above are just a few of the 600+ genes that are analyzed with the clinical genomics  that we utilized at The Johnson Center. 


Please note that genes are never looked at in isolation but part of the whole picture within the complete genome. In this patient, as in every patient, cardiac genes are also looked at with genes in the following categories: inflammation, stress, detoxification and oxidative stress, nutrients, mitochondria and cognition. But the above gives you brief look at some of the cardiac variations that could have a huge impact on future risks. Fortunately, all of these risks can be reduced with lifestyle changes and targeted supplements.


Combing your personal history, bloodwork and genomics is the definitive way to achieve personalized optimal health. It is very difficult to work on your personal health without looking at your genomic blueprint.  Your DNA is your roadmap to health and vitality and true preventive medicine

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