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Genes involved in Cardiac health management

A lot of cardiac issues can result from lifestyle choices such as smoking, poor diet, excess alcohol or lack of exercise or can result from medical conditions like diabetes or high blood pressure.

However another potential influencer related to cardiac health lies in your genes. Genes influence the risk for developing cardiac issues in many ways and control almost every aspect of the cardiovascular system for e.g. a genetic variation can change the way a particular protein works so that the body processes cholesterol differently, increasing the likelihood of blocked arteries.

The blog below gives insight into the different traits and genes associated in deciding the cardiac health of individuals.


Your genotype decides your propensity level of developing an imbalance in the methylation process that affects the cardiac health. Methylation is an epigenetic mechanism that involves adding a methyl group to DNA without changing the sequence. Any error or imbalance in the methylation of the DNA contributes to the risk of developing several diseases and destructive consequences.

Genes involved – MTRR, CBS, MTR

LDL Cholesterol Metabolism

Your genotype decides your propensity level of developing high levels of low density lipoprotein (LDL). Low Density Lipoprotein (LDL) also known as ‘bad cholesterol’, is a molecule that is a combination of lipid (fat) and protein and is responsible to transport fat molecules in the blood. The excess of LDL causes cholesterol and plaques to build up in the blood vessels.

Genes involved – APOE, LPL

HDL Cholesterol Metabolism

Your genotype decides your propensity level of developing low levels of high density lipoprotein (HDL). HDL cholesterol, also known as ‘good cholesterol' is an important component of blood that helps in regulating body cholesterol by eliminating LDL. Genetic variations influences the body’s ability to make high density lipoprotein (HDL).

Genes involved - APOC1, CETP

Oxidative Stress in Heart Health

Your genotype decides your propensity level of developing oxidative stress in cardiac health issues. Oxidative stress is the imbalance between the production of free radicals or reactive oxygen species (ROS) and antioxidants. An excess of ROS is involved in many pathophysiology of cardiovascular diseases.

Genes involved - Near SOD3, SOD3, NOS3, SOD2


Your genotype decides your propensity level of developing Hypertension. Hypertension is a condition in which the blood pressure is persistently high. Hypertension results from a complex interaction of genes and environmental factors. Unmanaged hypertension can lead to heart attack, stroke, and other health problems.

Genes involved - GRK4, ADD1, AGTR1, AGT


Your genotype decides your propensity level of developing Stroke. Commonly, a stroke occurs in the brain due to deficiency of oxygen and blood supply (blocked artery) to the brain (ischemia). Due to this the brain cells (neurons) cannot make enough energy and eventually die.

Genes involved - IL1A, PITX2-ENPEP, NINJ2, HDAC9, ADRB2


Your genotype decides your propensity level of developing Atherosclerosis. Atherosclerosis is a disease in which plaques made up of fat, cholesterol, calcium, and other substances buildup in artery walls, thus narrowing the opening of the arteries and restricting blood flow, leading to cardiovascular diseases.

Genes involved - TNFRSF11B, CD40

Atrial Fibrillation

Your genotype decides your propensity of developing Atrial Fibrillation. Atrial Fibrillation is a condition in which the heart rate is irregular and rapid, leading to a risk of stroke and other heart conditions.

Genes involved - Near PITX2, PITX2-ENPEP, AGT

Triglyceride Levels

Your genotype decides your propensity of developing high Triglyceride Levels. Triglycerides are a major constituent of body fat in humans. Fatty acids contained in triglycerides are an essential source of energy for the cells in our body. Triglyceride concentration can be measured in blood and may provide valuable information about metabolism and general health

Genes involved – APOE, GCKR, MLXIPL, BUD13

Coronary Artery Disease

Your genotype decides your propensity of developing Coronary Artery Disease (CAD). Coronary arteries are the major blood vessel group that supply blood to the heart. Any damage to these blood vessels due to plaque buildup could cause reduced blood supply to the heart leading to Coronary Artery Disease (CAD).

Genes involved - PLA2G7, PHACTR1, ATP2B1, TCF7L2

Coronary Heart Disease

Your genotype decides your propensity level of developing Coronary Heart Disease. Coronary Heart Disease (CHD), also called Ischemic Heart Disease occurs when the heart's blood supply is interrupted due to buildup of plaque in the coronary arteries which leads to a state of inflammation and gradual thickening of the coronary arteries and over the time causes the lining of the arteries to get scarred or furred up causing atherosclerosis.

Genes involved - ALDH2, CDKN2B-AS1

Myocardial Infarction

Your genotype decides your propensity level for developing Myocardial Infarction. Myocardial Infarction occurs when blood flow to the heart suddenly becomes restricted. Without blood being pumped, the heart does not receive oxygen. If not treated quickly, the heart muscle begins to perish.

Genes involved - SMARCA4, JCAD, LIPA


Your genotype decides your propensity level of developing Cardiomyopathy. Cardiomyopathy, also known as heart muscle disease, is a type of progressive heart disease in which the heart is abnormally enlarged, thickened, and/or stiffened.

Genes involved - CTLA4

Epigenomics which includes DNA methylation and histone modification is emerging as one of the most promising areas to help address the role of genes in managing cardiac health. Genomic profiling helps us to understand the epigenetic changes and genetic variations that increase predisposition to developing cardiac issues. The earlier we are able to understand this the more proactively we can take steps to create a personalized cardiac health management program by involving the right diet, nutrition, exercises and lifestyle modifications to improve and manage cardiac health.


  1. University Hospitals - How Your Genes Can Influence Your Heart Health, February 06, 2020

  2. Harvard Health Publishing, Harvard Medical School - The genetics of heart disease: An update, September 1, 2017

  3. Charbel Abi Khalil - The emerging role of epigenetics in cardiovascular disease, Therapeutic Advances in Chronic Disease 2014 Jul; 5(4): 178–187

  4. Ordovás, J., Smith, C. - Epigenetics and cardiovascular disease, Nat Rev Cardiol 7, 510–519 (2010)

  5. Papait et al., Role of the Epigenome in Heart Failure, Physiol Rev 100: 1753–1777, April 23, 2020

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