Genetic test result descriptions
You will receive only what is relevant to your specific results. Included below are ALL the possible genotypes.
1. Apolipoprotein E (ApoE) - Influences Heart Disease and Alzheimer's Disease Risk and the Best Diet to Avoid Them
-ApoE plays multiple roles in the regulation of cholesterol and how your body metabolizes nutrients from your diet, including fats, carbohydrates, protein and even alcohol.
-E3/E3 is the most common genotype and the reference point when comparing other genotypes and associated risk.
-Saturated fat is extremely unhealthy for all ApoE genotypes.
-Fish oil supplements improve HDL, triglycerides, and small dense LDL in all ApoE genotypes.
-Regarding the alcohol statements below, it is important to remember other health consequences of alcohol intake includes blood pressure, injuries, car crashes, and an increased risk of breast, liver, and rectal cancer. If you don’t currently drink, do not start.
**YOUR GENOTYPE IS NOTED BELOW WITH INDIVIDUAL GUIDANCE**
[ ] E2/E2
-1% of the population have this genotype.
-Associated with increased triglycerides, low total cholesterol, lowest LDL, and low risk of cardiovascular disease.
-Respond well to statins (will decrease LDL).
-(If you already drink) Moderate alcohol consumption can decrease LDL and increase HDL. Moderate is defined as 2 drinks per day for men and 1 drink per day for women.
-A carbohydrate-rich diet may worsen cholesterol. Low fat protein may improve cholesterol by lowering LDL.
-Following an extremely low fat diet can increase (bad) small dense LDL levels and should be avoided. In patients with very high triglycerides, it would be more beneficial to cut down on carbs instead of fat.
-An anti-inflammatory diet with a moderate fat content of 35% of your total daily calories from heart-healthy sources is recommended as this can help cholesterol levels.
-Heart healthy fats like omega-3 rich oily fish (such as salmon, tuna, lake trout, sardines, and herring), nuts, flax seeds, olive oil, and leafy green vegetables.
-Additional information about anti-inflammatory diet - https://www.drweil.com/diet-nutrition/anti-inflammatory-diet-pyramid/dr-weils-anti-inflammatory-food-pyramid/
-Exercising before a meal will reduce cholesterol.
[ ] E2/E3
-10% of the population have this genotype.
-Associated with the lowest LDL, low total cholesterol, and low risk of cardiovascular disease.
-Respond well to statins (will decrease LDL).
-(If you already drink) Moderate alcohol intake can decrease LDL and increase HDL. Moderate is 2 drinks per day for men and 1 drink per day for women.
-A carbohydrate-rich diet may worsen cholesterol. Low fat protein may improve cholesterol by lowering LDL.
-Following an extremely low fat diet can increase (bad) small dense LDL levels and should be avoided. In patients with very high triglycerides, it would be more beneficial to cut down on carbs instead of fat.
-An anti-inflammatory diet with a moderate fat content of 35% of your total daily calories from heart-healthy sources is recommended as this can help cholesterol levels.
-Heart healthy fats like omega-3 rich oily fish (such as salmon, tuna, lake trout, sardines, and herring), nuts, flax seeds, vegetable oils, olive oil, and leafy green vegetables.
-Additional information about anti-inflammatory diet - https://www.drweil.com/diet-nutrition/anti-inflammatory-diet-pyramid/dr-weils-anti-inflammatory-food-pyramid/
-Exercising before a meal will reduce cholesterol.
[ ] E2/E4
-2% of the population have this genotype.
-Associated with the moderate risk of cardiovascular disease and Alzheimer's disease (there is some evidence that carrying the E2 genotype helps reduce the increased risk of Alzheimer’s disease from the E4 genotype).
-Associated with normal lipid metabolism.
-(If you already drink) Moderate alcohol intake may decrease LDL and increase HDL. Moderate is 2 drinks per day for men and 1 drink per day for women.
-A carbohydrate-rich diet may be neutral to cholesterol. Low fat protein may improve cholesterol by lowering LDL.
-An anti-inflammatory diet with a low fat content of 25% of your total daily calories from heart-healthy sources is recommended.
-Heart healthy fats like omega-3 rich oily fish (such as salmon, tuna, lake trout, sardines, and herring), nuts, flax seeds, vegetable oils, olive oil, and leafy green vegetables.
-Additional information about anti-inflammatory diet - https://www.drweil.com/diet-nutrition/anti-inflammatory-diet-pyramid/dr-weils-anti-inflammatory-food-pyramid/
-Exercising before a meal will reduce cholesterol.
[ ] E3/E3
-62% of the population have this genotype.
-Associated with moderate cardiovascular disease risk.
-Associated with normal lipid metabolism, lower total cholesterol, lower LDL, and low cardiovascular disease risk.
-(If you already drink) Moderate alcohol intake may decrease LDL and increase HDL. Moderate is 2 drinks per day for men and 1 drink per day for women.
-A carbohydrate-rich diet may be neutral to cholesterol. Low fat protein may improve cholesterol by lowering LDL.
-An anti-inflammatory diet with a low fat content of 25% of your total daily calories from heart-healthy sources is recommended.
-Heart healthy fats like omega-3 rich oily fish (such as salmon, tuna, lake trout, sardines, and herring), nuts, flax seeds, vegetable oils, olive oil, and leafy green vegetables.
-Additional information about anti-inflammatory diet - https://www.drweil.com/diet-nutrition/anti-inflammatory-diet-pyramid/dr-weils-anti-inflammatory-food-pyramid/
-Exercising before a meal will reduce cholesterol.
[ ] E3/E4
-20% of the population have this genotype.
-Associated with the high risk of cardiovascular disease and increased risk (up to 3-5x higher) for Alzheimer's disease.
-Associated with predisposition to elevated total cholesterol levels, triglycerides, and elevated LDL levels.
-Statins are less effective (limited decrease in LDL) but still needed for anti-inflammatory benefit. May need to consider adding Ezetimibe for additional LDL lowering.
-Associated with an increased risk of metabolic syndrome and atherosclerosis (plaque) along with a higher risk (42%) of heart disease when consuming a diet high in saturated fat.
-Recommended to limit or avoid alcohol completely as it lowers HDL and raises LDL.
-A carbohydrate-rich diet (high complex carbs like fruit, vegetables, and whole grains) may be helpful to cholesterol. Low fat protein may improve cholesterol by lowering LDL.
-An anti-inflammatory diet with a very low fat content of 20% of your total daily calories from heart-healthy sources is recommended because with this genotype, even good fats may worsen cholesterol.
-Heart healthy fats like omega-3 rich oily fish (such as salmon, tuna, lake trout, sardines, and herring), nuts, flax seeds, vegetable oils, olive oil, and leafy green vegetables.
-Additional information about anti-inflammatory diet - https://www.drweil.com/diet-nutrition/anti-inflammatory-diet-pyramid/dr-weils-anti-inflammatory-food-pyramid/
-Exercise is good, however, exercising before a meal does not reduce cholesterol.
-If taking a fish oil supplement, limit Omega-3 DHA to 1,000 mg per day.
[ ] E4/E4
-5% of the population have this genotype.
-Associated with the high risk of cardiovascular disease and increased risk (up to 15-20x higher) for Alzheimer's disease.
-Associated with predisposition to elevated total cholesterol levels, triglycerides, and elevated LDL levels.
-Statins are less effective (limited decrease in LDL) but still needed for anti-inflammatory benefit. May need to consider adding Ezetimibe for additional LDL lowering.
-Associated with an increased risk of metabolic syndrome and atherosclerosis (plaque) along with a higher risk (42%) of heart disease when consuming a diet high in saturated fat.
-Recommended to limit or avoid alcohol completely as it lowers HDL and raises LDL.
-A carbohydrate-rich diet (high complex carbs like fruit, vegetables, and whole grains) may be helpful to cholesterol. Low fat protein may improve cholesterol by lowering LDL.
-An anti-inflammatory diet with a very low fat content of 20% of your total daily calories from heart-healthy sources is recommended because with this genotype, even good fats may worsen cholesterol.
-Heart healthy fats like omega-3 rich oily fish (such as salmon, tuna, lake trout, sardines, and herring), nuts, flax seeds, vegetable oils, olive oil, and leafy green vegetables.
-Additional information about anti-inflammatory diet - https://www.drweil.com/diet-nutrition/anti-inflammatory-diet-pyramid/dr-weils-anti-inflammatory-food-pyramid/
-Exercise is good, however, exercising before a meal does not reduce cholesterol.
-If taking a fish oil supplement, limit Omega-3 DHA to 1,000 mg per day.
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2. CYP2C19 - Influences Effectiveness of Anti-platelet Medication Clopidogrel (Plavix)
[ ] Not applicable for your care at this time due to not being on or not needing Clopidogrel.
-Clopidogrel may need to be used in patients with Aspirin resistance or patients who require two anti-platelet medications.
-Other factors, such as age, body mass index, chronic kidney disease, diabetes mellitus, and the use of certain proton pump inhibitors, may also influence Clopidogrel response.
-Avoid taking Omeprazole (Prilosec) or Esomeprazole (Nexium) while on Clopidogrel.
-Discontinue Clopidogrel 5 days prior to elective surgery that has a major risk of bleeding.
-P2Y12 inhibitors = Clopidogrel (Plavix), Ticlopidine (Ticlid), Ticagrelor (Brilinta), Prasugrel (Effient), and Cangrelor (Kengreal). Consider Ticagrelor for recent brain events or Prasugrel for recent heart events.
**YOUR GENOTYPE IS NOTED BELOW WITH INDIVIDUAL GUIDANCE**
[ ] 1/1 - Normal metabolizer. Normal dose can be used. Ok to use all P2Y12 inhibitors.
[ ] 2/17 and 3/17 - Metabolism is not known but is assumed to fall in the normal category. Normal dose can be used or another P2Y12 inhibitor, if indicated, is recommended.
[ ] 1/17 - Increased metabolizer. Reduced risk of major adverse cardiac events while being treated with Clopidogrel, but are at an increased risk of bleeding. Only normal dose or lower than normal dose are recommended, if indicated. Monitor for potential bleeding. Ok to use all P2Y12 inhibitors.
[ ] 17/17 - Markedly increased metabolizer. Reduced risk of major adverse cardiac events while being treated with Clopidogrel, but are at an increased risk of bleeding. Only normal dose or lower than normal dose are recommended, if indicated. Monitor for potential bleeding. Ok to use all P2Y12 inhibitors.
[ ] 1/2 or 1/3 - Decreased metabolizer. 2X the risk of having a subsequent adverse cardiac event while receiving treatment with Clopidogrel after a heart attack. Consider a higher dose or another P2Y12 inhibitor, if indicated, is recommended.
[ ] 2/2, 2/3, or 3/3 - Markedly decreased metabolizer. 2X the risk of having a subsequent adverse cardiac event while receiving treatment with Clopidogrel after a heart attack. Consider a higher dose or another P2Y12 inhibitor, if indicated, is recommended.
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3. 9p21 - Identifies Carriers of the Heart Attack Gene and Offers Insight into the Safest Blood Sugar Management Strategy for People with Type 2 Diabetes.
-Independent predictor of risk for developing extensive heart disease at an unusually young age.
-Two areas of the gene are evaluated (rs10757278 and rs1333049). Your disease risk is based on the genotype with the highest risk between these two areas.
**YOUR GENOTYPE IS NOTED BELOW WITH INDIVIDUAL GUIDANCE**
a) rs10757278
[ ] Genotype A/A. Optimal. Normal cardiovascular disease risk.
[ ] Genotype A/G. Borderline. 1.5 fold increased cardiovascular disease risk.
-33% increased risk for abdominal aortic aneurysm (AAA) which kills about 10,000 Americans a year.
-25% increase in lifetime risk for heart attacks and heart disease.
-50% increase in risk for premature heart attacks and heart disease.
-If you have persistently poorly controlled type 2 diabetes (A1C greater than 7.0 for 10+ years), your risk for heart disease increases 2x compared to poorly controlled diabetics without this gene.
-By staying physically fit, you can reduce your risk for cardiovascular disease by up to 50%.
-If you have a first degree relative who has/had a brain aneurysm, you may need imaging to evaluate.
-An ankle-brachial index may be needed to evaluate for peripheral arterial disease starting at age 40. Some older patients or those with chronic kidney disease or diabetes may develop rigid blood vessels that don’t compress easily with blood pressure cuff which can make ABI inaccurate. So may need to perform a toe-brachial index because blood vessels of the toe rarely become rigid.
-Ultrasound imaging may be needed to screen for AAA starting at age 40. If normal, repeat every 5 years.
[ ] Genotype G/G. High Risk. 2.0 fold increased cardiovascular disease risk.
-75% increased risk for abdominal aortic aneurysm (AAA) which kills about 10,000 Americans a year.
-50% increase in lifetime risk for heart attacks and heart disease.
-100% increase in risk for premature heart attacks and heart disease.
-200% increase in risk from death from cardiovascular causes.
-47% increase in risk for ischemic strokes and 60% increase in risk for hemorrhagic strokes.
-If you have persistently poorly controlled type 2 diabetes (A1C greater than 7.0 for 10+ years), your risk for heart disease increases 4x and the risk of death increases 2x in the next 10 years compared to poorly controlled diabetics without this gene.
-By staying physically fit, you can reduce your risk for cardiovascular disease by up to 50%.
-If you have type 2 diabetes, your goal A1C is less than 6.5.
-If you have a first degree relative who has/had a brain aneurysm, you may need imaging to evaluate.
-An ankle-brachial index may be needed to evaluate for peripheral arterial disease starting at age 40. Some older patients or those with chronic kidney disease or diabetes may develop rigid blood vessels that don’t compress easily with blood pressure cuff which can make ABI inaccurate. So may need to perform a toe-brachial index because blood vessels of the toe rarely become rigid.
-Ultrasound imaging may be needed to screen for AAA starting at age 40. If normal, repeat every 5 years.
b) rs1333049
[ ] Genotype G/G. Optimal. Normal cardiovascular disease risk.
[ ] Genotype C/G. Borderline. 1.5 fold increased cardiovascular disease risk.
-33% increased risk for abdominal aortic aneurysm (AAA) which kills about 10,000 Americans a year.
-25% increase in lifetime risk for heart attacks and heart disease.
-50% increase in risk for premature heart attacks and heart disease.
-If you have persistently poorly controlled type 2 diabetes (A1C greater than 7.0 for 10+ years), your risk for heart disease increases 2x compared to poorly controlled diabetics without this gene.
-By staying physically fit, you can reduce your risk for cardiovascular disease by up to 50%.
-If you have type 2 diabetes, your goal A1C is less than 6.5.
-If you have a first degree relative who has/had a brain aneurysm, you may need imaging to evaluate.
-An ankle-brachial index may be needed to evaluate for peripheral arterial disease starting at age 40. Some older patients or those with chronic kidney disease or diabetes may develop rigid blood vessels that don’t compress easily with blood pressure cuff which can make ABI inaccurate. So may need to perform a toe-brachial index because blood vessels of the toe rarely become rigid.
-Ultrasound imaging may be needed to screen for AAA starting at age 40. If normal, repeat every 5 years.
[ ] Genotype C/C. High Risk. 2.0 fold increased cardiovascular disease risk.
-75% increased risk for abdominal aortic aneurysm (AAA) which kills about 10,000 Americans a year.
-50% increase in lifetime risk for heart attacks and heart disease.
-100% increase in risk for premature heart attacks and heart disease.
-200% increase in risk from death from cardiovascular causes.
-If you have persistently poorly controlled type 2 diabetes (A1C greater than 7.0 for 10+ years), your risk for heart disease increases 4x and the risk of death increases 2x in the next 10 years compared to poorly controlled diabetics without this gene.
-By staying physically fit, you can reduce your risk for cardiovascular disease by up to 50%.
-If you have type 2 diabetes, your goal A1C is less than 6.5.
-If you have a first degree relative who has/had a brain aneurysm, you may need imaging to evaluate.
-An ankle-brachial index may be needed to evaluate for peripheral arterial disease starting at age 40. Some older patients or those with chronic kidney disease or diabetes may develop rigid blood vessels that don’t compress easily with blood pressure cuff which can make ABI inaccurate. So may need to perform a toe-brachial index because blood vessels of the toe rarely become rigid.
-Ultrasound imaging may be needed to screen for AAA starting at age 40. If normal, repeat every 5 years.
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4. Haptoglobin - Predicts Cardiovascular Danger in Diabetics and Identifies People Who Can Benefit from a Gluten-Free Diet
**YOUR GENOTYPE IS NOTED BELOW WITH INDIVIDUAL GUIDANCE**
[ ] Haptoglobin 1/1
-16% of population
-If you have diabetes, the goal A1C is less than 6.25 to reduce dementia risk.
-No cardiovascular benefit from a gluten-free diet.
[ ] Haptoglobin 1/2
-48% of population
[ ] With type 2 diabetes and/or (advanced kidney disease?)
-3x more likely to have a heart attack compared to a diabetic with 1/1.
-At higher risk of complications such as heart failure, kidney disease, and diabetic retinopathy.
-Recommend tight glycemic control (A1C less than 7.0). Consider continuous glucose monitoring.
-May benefit from a gluten-free diet (avoid or limit). Protein made for haptoglobin 2 is Zonulin which causes leaky barriers (gut, airway, blood/brain). Zonulin increases the risk for autoimmune diseases, cancers, and central nervous diseases (autism, schizophrenia, bipolar, depression, ADHD).
-Eat pre and pro biotic foods, 30 grams soluble fiber, and take a probiotic daily to protect and enhance gut health.
-Limit artificial sweeteners.
-Drinking coffee may help your gut biome.
[ ] Without type 2 diabetes
-May benefit from a gluten-free diet (avoid or limit). Protein made for haptoglobin 2 is Zonulin which causes leaky barriers (gut, airway, blood/brain). Zonulin increases the risk for autoimmune diseases, cancers, and central nervous diseases (autism, schizophrenia, bipolar, depression, ADHD).
-Eat pre and pro biotic foods, 30 grams soluble fiber, and take a probiotic daily to protect and enhance gut health.
-Limit artificial sweeteners.
-Drinking coffee may help your gut biome.
[ ] Haptoglobin 2/2
- 36% of population.
[ ] With type 2 diabetes and/or (advanced kidney disease?)
-Type 2 diabetic patients are 5x more likely to have a heart attack compared to a diabetic with 1/1.
-To help reduce this risk, Vitamin E (d-alpha tocopherol) supplementation with 400 IU (268 mg) daily after a meal has been demonstrated to reduce the risk of cardiovascular events by 34% and cardiovascular death by 53%.
-Type 1 diabetic patients may benefit from Vitamin E however larger studies are needed.
-Recommend tight glycemic control (A1C less than 6.5) otherwise you have 20x risk of a heart attack. Consider continuous glucose monitoring.
-May benefit from a gluten-free diet (avoid or limit). Protein made for haptoglobin 2 is Zonulin which causes leaky barriers (gut, airway, blood/brain). Zonulin increases the risk for autoimmune disease, cancers, and central nervous disease (autism, schizophrenia, bipolar, depression, ADHD).
-Eat pre and pro biotic foods, 30 grams soluble fiber, and take a probiotic daily to protect and enhance gut health.
-Limit artificial sweeteners.
-Drinking coffee may help your gut biome.
-Avoid unnecessary antibiotics.
-Avoid excess Vitamin C supplements.
[ ] With type 1 diabetes, insulin resistance, or prediabetes
-It is known that type 2 diabetic patients are 5x more likely to have a heart attack compared to type 2 diabetic patients with Haptoglobin 1/1. Patients with type 1 diabetes, insulin resistance, or prediabetes, may benefit from Vitamin E however larger studies are needed to verify. Please discuss with your doctor if Vitamin E is right for you.
-May benefit from a gluten-free diet (avoid or limit). Protein made for haptoglobin 2 is Zonulin which causes leaky barriers (gut, airway, blood/brain). Zonulin increases the risk for autoimmune disease, cancers, and central nervous disease (autism, schizophrenia, bipolar, depression, ADHD).
-Eat pre and pro biotic foods, 30 grams soluble fiber, and take a probiotic daily to protect and enhance gut health.
-Limit artificial sweeteners.
-Drinking coffee may help your gut biome.
-Avoid unnecessary antibiotics.
-Avoid excess Vitamin C supplements.
[ ] Without types 1 or 2 diabetes, insulin resistance, or prediabetes
-Vitamin E can be hazardous for nondiabetics. Studies suggest it can raise risk of heart attacks and even early death in people without this gene.
-May benefit from a gluten-free diet (avoid or limit). Protein made for haptoglobin 2 is Zonulin which causes leaky barriers (gut, airway, blood/brain). Zonulin increases the risk for autoimmune disease, cancers, and central nervous disease (autism, schizophrenia, bipolar, depression, ADHD).
-Eat pre and pro biotic foods, 30 grams soluble fiber, and take probiotic daily to protect and enhance gut health.
-Limit artificial sweeteners.
-Drinking coffee may help your gut biome.
-Avoid unnecessary antibiotics.
-Avoid excess Vitamin C supplements.
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5. KIF6 - Predicts Statin Response and Heart Attack Risk
-Regardless of genotype, if you fall into one of these categories, Atorvastatin (Lipitor) may not be an appropriate statin for you:
1) Women
2) Diabetes
3) Insulin resistance/prediabetes
4) Metabolic syndrome
**YOUR GENOTYPE IS NOTED BELOW WITH INDIVIDUAL GUIDANCE**
[ ] T/T (non-carrier) (AA)
-60% of the population have this variant.
-Optimal. Normal cardiovascular disease risk.
-If you are taking Atorvastatin (Lipitor) or Pravastatin (Pravachol), there is a 40% chance you're getting no cardiovascular protection. Avoid both.
-Ok to use Fluvastatin (Lescol), Lovastatin (Mevacor), Pitavastatin (Livalo), and Rosuvastatin (Crestor).
[ ] C/T or C/C (carrier) (T->A) (AG or GG)
-40% of the population have this variant.
-You have up to a 55% higher risk for heart attacks, strokes, or death from cardiovascular causes compared to non-carriers.
-Statin (cholesterol medication) may reduce this risk.
-Ok to use Atorvastatin (Lipitor), Fluvastatin (Lescol), Lovastatin (Mevacor), Pitavastatin (Livalo), Pravastatin (Pravachol), and Rosuvastatin (Crestor).
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6. 4q25 - Predicts Increased Risk for Atrial Fibrillation (A Fib) and Stroke
-Found in about 20% of the population (30% of Caucasian population and 70% of Chinese population).
-Atrial fibrillation quintuples the risk for strokes and doubles the risk for heart attacks or dementia.
Regardless of your genotype, here are ways to reduce A fib risk:
-Daily coffee with 2-3 cups may be protective.
-Ensure 7-8 hours of quality sleep.
-Maintain a potassium level at or above 4 mg/dL and maintain a magnesium level at or above 2 mg/dL.
-Omega-3 DHA may be protective. Omega-3 is found in oily fish (such as salmon, tuna, lake trout, sardines, and herring), nuts, flax seeds, olive oil, and leafy green vegetables. If your levels are low, an Omega-3 supplement may be appropriate.
-Exercise regularly. (Men should be cautious if participating in frequent high intensity training.)
-Avoid diabetes and prediabetes.
-Goal vital signs: resting heart rate goal below 75, systolic blood pressure below 130, and BMI below 30.
-Annual influenza vaccine.
-Avoid all nicotine use/exposure.
**YOUR GENOTYPE IS NOTED BELOW WITH INDIVIDUAL GUIDANCE**
a) rs2200733
[ ] C/C - Normal risk of A fib and stroke.
[ ] T/C and T/T - 1.5-fold increased risk of A fib and stroke.
-70% increased lifetime risk of A fib. Monitor and if it develops, use anticoagulant therapy.
-Take 4 teaspoons of olive oil daily as part of a Mediterranean diet (unless you have Apo E3/4 or E4/4 genotype). This can provide a 38% risk reduction in A fib.
-Avoid or only drink alcohol in moderation.
b) rs10033464
[ x ] Is no longer associated with A fib and stroke risk. You can ignore this genotype on the report.
-ApoE plays multiple roles in the regulation of cholesterol and how your body metabolizes nutrients from your diet, including fats, carbohydrates, protein and even alcohol.
-E3/E3 is the most common genotype and the reference point when comparing other genotypes and associated risk.
-Saturated fat is extremely unhealthy for all ApoE genotypes.
-Fish oil supplements improve HDL, triglycerides, and small dense LDL in all ApoE genotypes.
-Regarding the alcohol statements below, it is important to remember other health consequences of alcohol intake includes blood pressure, injuries, car crashes, and an increased risk of breast, liver, and rectal cancer. If you don’t currently drink, do not start.
**YOUR GENOTYPE IS NOTED BELOW WITH INDIVIDUAL GUIDANCE**
[ ] E2/E2
-1% of the population have this genotype.
-Associated with increased triglycerides, low total cholesterol, lowest LDL, and low risk of cardiovascular disease.
-Respond well to statins (will decrease LDL).
-(If you already drink) Moderate alcohol consumption can decrease LDL and increase HDL. Moderate is defined as 2 drinks per day for men and 1 drink per day for women.
-A carbohydrate-rich diet may worsen cholesterol. Low fat protein may improve cholesterol by lowering LDL.
-Following an extremely low fat diet can increase (bad) small dense LDL levels and should be avoided. In patients with very high triglycerides, it would be more beneficial to cut down on carbs instead of fat.
-An anti-inflammatory diet with a moderate fat content of 35% of your total daily calories from heart-healthy sources is recommended as this can help cholesterol levels.
-Heart healthy fats like omega-3 rich oily fish (such as salmon, tuna, lake trout, sardines, and herring), nuts, flax seeds, olive oil, and leafy green vegetables.
-Additional information about anti-inflammatory diet - https://www.drweil.com/diet-nutrition/anti-inflammatory-diet-pyramid/dr-weils-anti-inflammatory-food-pyramid/
-Exercising before a meal will reduce cholesterol.
[ ] E2/E3
-10% of the population have this genotype.
-Associated with the lowest LDL, low total cholesterol, and low risk of cardiovascular disease.
-Respond well to statins (will decrease LDL).
-(If you already drink) Moderate alcohol intake can decrease LDL and increase HDL. Moderate is 2 drinks per day for men and 1 drink per day for women.
-A carbohydrate-rich diet may worsen cholesterol. Low fat protein may improve cholesterol by lowering LDL.
-Following an extremely low fat diet can increase (bad) small dense LDL levels and should be avoided. In patients with very high triglycerides, it would be more beneficial to cut down on carbs instead of fat.
-An anti-inflammatory diet with a moderate fat content of 35% of your total daily calories from heart-healthy sources is recommended as this can help cholesterol levels.
-Heart healthy fats like omega-3 rich oily fish (such as salmon, tuna, lake trout, sardines, and herring), nuts, flax seeds, vegetable oils, olive oil, and leafy green vegetables.
-Additional information about anti-inflammatory diet - https://www.drweil.com/diet-nutrition/anti-inflammatory-diet-pyramid/dr-weils-anti-inflammatory-food-pyramid/
-Exercising before a meal will reduce cholesterol.
[ ] E2/E4
-2% of the population have this genotype.
-Associated with the moderate risk of cardiovascular disease and Alzheimer's disease (there is some evidence that carrying the E2 genotype helps reduce the increased risk of Alzheimer’s disease from the E4 genotype).
-Associated with normal lipid metabolism.
-(If you already drink) Moderate alcohol intake may decrease LDL and increase HDL. Moderate is 2 drinks per day for men and 1 drink per day for women.
-A carbohydrate-rich diet may be neutral to cholesterol. Low fat protein may improve cholesterol by lowering LDL.
-An anti-inflammatory diet with a low fat content of 25% of your total daily calories from heart-healthy sources is recommended.
-Heart healthy fats like omega-3 rich oily fish (such as salmon, tuna, lake trout, sardines, and herring), nuts, flax seeds, vegetable oils, olive oil, and leafy green vegetables.
-Additional information about anti-inflammatory diet - https://www.drweil.com/diet-nutrition/anti-inflammatory-diet-pyramid/dr-weils-anti-inflammatory-food-pyramid/
-Exercising before a meal will reduce cholesterol.
[ ] E3/E3
-62% of the population have this genotype.
-Associated with moderate cardiovascular disease risk.
-Associated with normal lipid metabolism, lower total cholesterol, lower LDL, and low cardiovascular disease risk.
-(If you already drink) Moderate alcohol intake may decrease LDL and increase HDL. Moderate is 2 drinks per day for men and 1 drink per day for women.
-A carbohydrate-rich diet may be neutral to cholesterol. Low fat protein may improve cholesterol by lowering LDL.
-An anti-inflammatory diet with a low fat content of 25% of your total daily calories from heart-healthy sources is recommended.
-Heart healthy fats like omega-3 rich oily fish (such as salmon, tuna, lake trout, sardines, and herring), nuts, flax seeds, vegetable oils, olive oil, and leafy green vegetables.
-Additional information about anti-inflammatory diet - https://www.drweil.com/diet-nutrition/anti-inflammatory-diet-pyramid/dr-weils-anti-inflammatory-food-pyramid/
-Exercising before a meal will reduce cholesterol.
[ ] E3/E4
-20% of the population have this genotype.
-Associated with the high risk of cardiovascular disease and increased risk (up to 3-5x higher) for Alzheimer's disease.
-Associated with predisposition to elevated total cholesterol levels, triglycerides, and elevated LDL levels.
-Statins are less effective (limited decrease in LDL) but still needed for anti-inflammatory benefit. May need to consider adding Ezetimibe for additional LDL lowering.
-Associated with an increased risk of metabolic syndrome and atherosclerosis (plaque) along with a higher risk (42%) of heart disease when consuming a diet high in saturated fat.
-Recommended to limit or avoid alcohol completely as it lowers HDL and raises LDL.
-A carbohydrate-rich diet (high complex carbs like fruit, vegetables, and whole grains) may be helpful to cholesterol. Low fat protein may improve cholesterol by lowering LDL.
-An anti-inflammatory diet with a very low fat content of 20% of your total daily calories from heart-healthy sources is recommended because with this genotype, even good fats may worsen cholesterol.
-Heart healthy fats like omega-3 rich oily fish (such as salmon, tuna, lake trout, sardines, and herring), nuts, flax seeds, vegetable oils, olive oil, and leafy green vegetables.
-Additional information about anti-inflammatory diet - https://www.drweil.com/diet-nutrition/anti-inflammatory-diet-pyramid/dr-weils-anti-inflammatory-food-pyramid/
-Exercise is good, however, exercising before a meal does not reduce cholesterol.
-If taking a fish oil supplement, limit Omega-3 DHA to 1,000 mg per day.
[ ] E4/E4
-5% of the population have this genotype.
-Associated with the high risk of cardiovascular disease and increased risk (up to 15-20x higher) for Alzheimer's disease.
-Associated with predisposition to elevated total cholesterol levels, triglycerides, and elevated LDL levels.
-Statins are less effective (limited decrease in LDL) but still needed for anti-inflammatory benefit. May need to consider adding Ezetimibe for additional LDL lowering.
-Associated with an increased risk of metabolic syndrome and atherosclerosis (plaque) along with a higher risk (42%) of heart disease when consuming a diet high in saturated fat.
-Recommended to limit or avoid alcohol completely as it lowers HDL and raises LDL.
-A carbohydrate-rich diet (high complex carbs like fruit, vegetables, and whole grains) may be helpful to cholesterol. Low fat protein may improve cholesterol by lowering LDL.
-An anti-inflammatory diet with a very low fat content of 20% of your total daily calories from heart-healthy sources is recommended because with this genotype, even good fats may worsen cholesterol.
-Heart healthy fats like omega-3 rich oily fish (such as salmon, tuna, lake trout, sardines, and herring), nuts, flax seeds, vegetable oils, olive oil, and leafy green vegetables.
-Additional information about anti-inflammatory diet - https://www.drweil.com/diet-nutrition/anti-inflammatory-diet-pyramid/dr-weils-anti-inflammatory-food-pyramid/
-Exercise is good, however, exercising before a meal does not reduce cholesterol.
-If taking a fish oil supplement, limit Omega-3 DHA to 1,000 mg per day.
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2. CYP2C19 - Influences Effectiveness of Anti-platelet Medication Clopidogrel (Plavix)
[ ] Not applicable for your care at this time due to not being on or not needing Clopidogrel.
-Clopidogrel may need to be used in patients with Aspirin resistance or patients who require two anti-platelet medications.
-Other factors, such as age, body mass index, chronic kidney disease, diabetes mellitus, and the use of certain proton pump inhibitors, may also influence Clopidogrel response.
-Avoid taking Omeprazole (Prilosec) or Esomeprazole (Nexium) while on Clopidogrel.
-Discontinue Clopidogrel 5 days prior to elective surgery that has a major risk of bleeding.
-P2Y12 inhibitors = Clopidogrel (Plavix), Ticlopidine (Ticlid), Ticagrelor (Brilinta), Prasugrel (Effient), and Cangrelor (Kengreal). Consider Ticagrelor for recent brain events or Prasugrel for recent heart events.
**YOUR GENOTYPE IS NOTED BELOW WITH INDIVIDUAL GUIDANCE**
[ ] 1/1 - Normal metabolizer. Normal dose can be used. Ok to use all P2Y12 inhibitors.
[ ] 2/17 and 3/17 - Metabolism is not known but is assumed to fall in the normal category. Normal dose can be used or another P2Y12 inhibitor, if indicated, is recommended.
[ ] 1/17 - Increased metabolizer. Reduced risk of major adverse cardiac events while being treated with Clopidogrel, but are at an increased risk of bleeding. Only normal dose or lower than normal dose are recommended, if indicated. Monitor for potential bleeding. Ok to use all P2Y12 inhibitors.
[ ] 17/17 - Markedly increased metabolizer. Reduced risk of major adverse cardiac events while being treated with Clopidogrel, but are at an increased risk of bleeding. Only normal dose or lower than normal dose are recommended, if indicated. Monitor for potential bleeding. Ok to use all P2Y12 inhibitors.
[ ] 1/2 or 1/3 - Decreased metabolizer. 2X the risk of having a subsequent adverse cardiac event while receiving treatment with Clopidogrel after a heart attack. Consider a higher dose or another P2Y12 inhibitor, if indicated, is recommended.
[ ] 2/2, 2/3, or 3/3 - Markedly decreased metabolizer. 2X the risk of having a subsequent adverse cardiac event while receiving treatment with Clopidogrel after a heart attack. Consider a higher dose or another P2Y12 inhibitor, if indicated, is recommended.
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3. 9p21 - Identifies Carriers of the Heart Attack Gene and Offers Insight into the Safest Blood Sugar Management Strategy for People with Type 2 Diabetes.
-Independent predictor of risk for developing extensive heart disease at an unusually young age.
-Two areas of the gene are evaluated (rs10757278 and rs1333049). Your disease risk is based on the genotype with the highest risk between these two areas.
**YOUR GENOTYPE IS NOTED BELOW WITH INDIVIDUAL GUIDANCE**
a) rs10757278
[ ] Genotype A/A. Optimal. Normal cardiovascular disease risk.
[ ] Genotype A/G. Borderline. 1.5 fold increased cardiovascular disease risk.
-33% increased risk for abdominal aortic aneurysm (AAA) which kills about 10,000 Americans a year.
-25% increase in lifetime risk for heart attacks and heart disease.
-50% increase in risk for premature heart attacks and heart disease.
-If you have persistently poorly controlled type 2 diabetes (A1C greater than 7.0 for 10+ years), your risk for heart disease increases 2x compared to poorly controlled diabetics without this gene.
-By staying physically fit, you can reduce your risk for cardiovascular disease by up to 50%.
-If you have a first degree relative who has/had a brain aneurysm, you may need imaging to evaluate.
-An ankle-brachial index may be needed to evaluate for peripheral arterial disease starting at age 40. Some older patients or those with chronic kidney disease or diabetes may develop rigid blood vessels that don’t compress easily with blood pressure cuff which can make ABI inaccurate. So may need to perform a toe-brachial index because blood vessels of the toe rarely become rigid.
-Ultrasound imaging may be needed to screen for AAA starting at age 40. If normal, repeat every 5 years.
[ ] Genotype G/G. High Risk. 2.0 fold increased cardiovascular disease risk.
-75% increased risk for abdominal aortic aneurysm (AAA) which kills about 10,000 Americans a year.
-50% increase in lifetime risk for heart attacks and heart disease.
-100% increase in risk for premature heart attacks and heart disease.
-200% increase in risk from death from cardiovascular causes.
-47% increase in risk for ischemic strokes and 60% increase in risk for hemorrhagic strokes.
-If you have persistently poorly controlled type 2 diabetes (A1C greater than 7.0 for 10+ years), your risk for heart disease increases 4x and the risk of death increases 2x in the next 10 years compared to poorly controlled diabetics without this gene.
-By staying physically fit, you can reduce your risk for cardiovascular disease by up to 50%.
-If you have type 2 diabetes, your goal A1C is less than 6.5.
-If you have a first degree relative who has/had a brain aneurysm, you may need imaging to evaluate.
-An ankle-brachial index may be needed to evaluate for peripheral arterial disease starting at age 40. Some older patients or those with chronic kidney disease or diabetes may develop rigid blood vessels that don’t compress easily with blood pressure cuff which can make ABI inaccurate. So may need to perform a toe-brachial index because blood vessels of the toe rarely become rigid.
-Ultrasound imaging may be needed to screen for AAA starting at age 40. If normal, repeat every 5 years.
b) rs1333049
[ ] Genotype G/G. Optimal. Normal cardiovascular disease risk.
[ ] Genotype C/G. Borderline. 1.5 fold increased cardiovascular disease risk.
-33% increased risk for abdominal aortic aneurysm (AAA) which kills about 10,000 Americans a year.
-25% increase in lifetime risk for heart attacks and heart disease.
-50% increase in risk for premature heart attacks and heart disease.
-If you have persistently poorly controlled type 2 diabetes (A1C greater than 7.0 for 10+ years), your risk for heart disease increases 2x compared to poorly controlled diabetics without this gene.
-By staying physically fit, you can reduce your risk for cardiovascular disease by up to 50%.
-If you have type 2 diabetes, your goal A1C is less than 6.5.
-If you have a first degree relative who has/had a brain aneurysm, you may need imaging to evaluate.
-An ankle-brachial index may be needed to evaluate for peripheral arterial disease starting at age 40. Some older patients or those with chronic kidney disease or diabetes may develop rigid blood vessels that don’t compress easily with blood pressure cuff which can make ABI inaccurate. So may need to perform a toe-brachial index because blood vessels of the toe rarely become rigid.
-Ultrasound imaging may be needed to screen for AAA starting at age 40. If normal, repeat every 5 years.
[ ] Genotype C/C. High Risk. 2.0 fold increased cardiovascular disease risk.
-75% increased risk for abdominal aortic aneurysm (AAA) which kills about 10,000 Americans a year.
-50% increase in lifetime risk for heart attacks and heart disease.
-100% increase in risk for premature heart attacks and heart disease.
-200% increase in risk from death from cardiovascular causes.
-If you have persistently poorly controlled type 2 diabetes (A1C greater than 7.0 for 10+ years), your risk for heart disease increases 4x and the risk of death increases 2x in the next 10 years compared to poorly controlled diabetics without this gene.
-By staying physically fit, you can reduce your risk for cardiovascular disease by up to 50%.
-If you have type 2 diabetes, your goal A1C is less than 6.5.
-If you have a first degree relative who has/had a brain aneurysm, you may need imaging to evaluate.
-An ankle-brachial index may be needed to evaluate for peripheral arterial disease starting at age 40. Some older patients or those with chronic kidney disease or diabetes may develop rigid blood vessels that don’t compress easily with blood pressure cuff which can make ABI inaccurate. So may need to perform a toe-brachial index because blood vessels of the toe rarely become rigid.
-Ultrasound imaging may be needed to screen for AAA starting at age 40. If normal, repeat every 5 years.
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4. Haptoglobin - Predicts Cardiovascular Danger in Diabetics and Identifies People Who Can Benefit from a Gluten-Free Diet
**YOUR GENOTYPE IS NOTED BELOW WITH INDIVIDUAL GUIDANCE**
[ ] Haptoglobin 1/1
-16% of population
-If you have diabetes, the goal A1C is less than 6.25 to reduce dementia risk.
-No cardiovascular benefit from a gluten-free diet.
[ ] Haptoglobin 1/2
-48% of population
[ ] With type 2 diabetes and/or (advanced kidney disease?)
-3x more likely to have a heart attack compared to a diabetic with 1/1.
-At higher risk of complications such as heart failure, kidney disease, and diabetic retinopathy.
-Recommend tight glycemic control (A1C less than 7.0). Consider continuous glucose monitoring.
-May benefit from a gluten-free diet (avoid or limit). Protein made for haptoglobin 2 is Zonulin which causes leaky barriers (gut, airway, blood/brain). Zonulin increases the risk for autoimmune diseases, cancers, and central nervous diseases (autism, schizophrenia, bipolar, depression, ADHD).
-Eat pre and pro biotic foods, 30 grams soluble fiber, and take a probiotic daily to protect and enhance gut health.
-Limit artificial sweeteners.
-Drinking coffee may help your gut biome.
[ ] Without type 2 diabetes
-May benefit from a gluten-free diet (avoid or limit). Protein made for haptoglobin 2 is Zonulin which causes leaky barriers (gut, airway, blood/brain). Zonulin increases the risk for autoimmune diseases, cancers, and central nervous diseases (autism, schizophrenia, bipolar, depression, ADHD).
-Eat pre and pro biotic foods, 30 grams soluble fiber, and take a probiotic daily to protect and enhance gut health.
-Limit artificial sweeteners.
-Drinking coffee may help your gut biome.
[ ] Haptoglobin 2/2
- 36% of population.
[ ] With type 2 diabetes and/or (advanced kidney disease?)
-Type 2 diabetic patients are 5x more likely to have a heart attack compared to a diabetic with 1/1.
-To help reduce this risk, Vitamin E (d-alpha tocopherol) supplementation with 400 IU (268 mg) daily after a meal has been demonstrated to reduce the risk of cardiovascular events by 34% and cardiovascular death by 53%.
-Type 1 diabetic patients may benefit from Vitamin E however larger studies are needed.
-Recommend tight glycemic control (A1C less than 6.5) otherwise you have 20x risk of a heart attack. Consider continuous glucose monitoring.
-May benefit from a gluten-free diet (avoid or limit). Protein made for haptoglobin 2 is Zonulin which causes leaky barriers (gut, airway, blood/brain). Zonulin increases the risk for autoimmune disease, cancers, and central nervous disease (autism, schizophrenia, bipolar, depression, ADHD).
-Eat pre and pro biotic foods, 30 grams soluble fiber, and take a probiotic daily to protect and enhance gut health.
-Limit artificial sweeteners.
-Drinking coffee may help your gut biome.
-Avoid unnecessary antibiotics.
-Avoid excess Vitamin C supplements.
[ ] With type 1 diabetes, insulin resistance, or prediabetes
-It is known that type 2 diabetic patients are 5x more likely to have a heart attack compared to type 2 diabetic patients with Haptoglobin 1/1. Patients with type 1 diabetes, insulin resistance, or prediabetes, may benefit from Vitamin E however larger studies are needed to verify. Please discuss with your doctor if Vitamin E is right for you.
-May benefit from a gluten-free diet (avoid or limit). Protein made for haptoglobin 2 is Zonulin which causes leaky barriers (gut, airway, blood/brain). Zonulin increases the risk for autoimmune disease, cancers, and central nervous disease (autism, schizophrenia, bipolar, depression, ADHD).
-Eat pre and pro biotic foods, 30 grams soluble fiber, and take a probiotic daily to protect and enhance gut health.
-Limit artificial sweeteners.
-Drinking coffee may help your gut biome.
-Avoid unnecessary antibiotics.
-Avoid excess Vitamin C supplements.
[ ] Without types 1 or 2 diabetes, insulin resistance, or prediabetes
-Vitamin E can be hazardous for nondiabetics. Studies suggest it can raise risk of heart attacks and even early death in people without this gene.
-May benefit from a gluten-free diet (avoid or limit). Protein made for haptoglobin 2 is Zonulin which causes leaky barriers (gut, airway, blood/brain). Zonulin increases the risk for autoimmune disease, cancers, and central nervous disease (autism, schizophrenia, bipolar, depression, ADHD).
-Eat pre and pro biotic foods, 30 grams soluble fiber, and take probiotic daily to protect and enhance gut health.
-Limit artificial sweeteners.
-Drinking coffee may help your gut biome.
-Avoid unnecessary antibiotics.
-Avoid excess Vitamin C supplements.
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5. KIF6 - Predicts Statin Response and Heart Attack Risk
-Regardless of genotype, if you fall into one of these categories, Atorvastatin (Lipitor) may not be an appropriate statin for you:
1) Women
2) Diabetes
3) Insulin resistance/prediabetes
4) Metabolic syndrome
**YOUR GENOTYPE IS NOTED BELOW WITH INDIVIDUAL GUIDANCE**
[ ] T/T (non-carrier) (AA)
-60% of the population have this variant.
-Optimal. Normal cardiovascular disease risk.
-If you are taking Atorvastatin (Lipitor) or Pravastatin (Pravachol), there is a 40% chance you're getting no cardiovascular protection. Avoid both.
-Ok to use Fluvastatin (Lescol), Lovastatin (Mevacor), Pitavastatin (Livalo), and Rosuvastatin (Crestor).
[ ] C/T or C/C (carrier) (T->A) (AG or GG)
-40% of the population have this variant.
-You have up to a 55% higher risk for heart attacks, strokes, or death from cardiovascular causes compared to non-carriers.
-Statin (cholesterol medication) may reduce this risk.
-Ok to use Atorvastatin (Lipitor), Fluvastatin (Lescol), Lovastatin (Mevacor), Pitavastatin (Livalo), Pravastatin (Pravachol), and Rosuvastatin (Crestor).
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6. 4q25 - Predicts Increased Risk for Atrial Fibrillation (A Fib) and Stroke
-Found in about 20% of the population (30% of Caucasian population and 70% of Chinese population).
-Atrial fibrillation quintuples the risk for strokes and doubles the risk for heart attacks or dementia.
Regardless of your genotype, here are ways to reduce A fib risk:
-Daily coffee with 2-3 cups may be protective.
-Ensure 7-8 hours of quality sleep.
-Maintain a potassium level at or above 4 mg/dL and maintain a magnesium level at or above 2 mg/dL.
-Omega-3 DHA may be protective. Omega-3 is found in oily fish (such as salmon, tuna, lake trout, sardines, and herring), nuts, flax seeds, olive oil, and leafy green vegetables. If your levels are low, an Omega-3 supplement may be appropriate.
-Exercise regularly. (Men should be cautious if participating in frequent high intensity training.)
-Avoid diabetes and prediabetes.
-Goal vital signs: resting heart rate goal below 75, systolic blood pressure below 130, and BMI below 30.
-Annual influenza vaccine.
-Avoid all nicotine use/exposure.
**YOUR GENOTYPE IS NOTED BELOW WITH INDIVIDUAL GUIDANCE**
a) rs2200733
[ ] C/C - Normal risk of A fib and stroke.
[ ] T/C and T/T - 1.5-fold increased risk of A fib and stroke.
-70% increased lifetime risk of A fib. Monitor and if it develops, use anticoagulant therapy.
-Take 4 teaspoons of olive oil daily as part of a Mediterranean diet (unless you have Apo E3/4 or E4/4 genotype). This can provide a 38% risk reduction in A fib.
-Avoid or only drink alcohol in moderation.
b) rs10033464
[ x ] Is no longer associated with A fib and stroke risk. You can ignore this genotype on the report.