Vitamins and minerals are essential for growth and development and for the healthy maintenance of cells, tissues, and organs. They are classified as micronutrients as they are only required in small amounts. The micronutrients our body needs are generally obtained through a healthy diet. Our genetic blueprint influences our ability to absorb and process micronutrients.
There are water soluble and fat-soluble vitamins. Water soluble vitamins are not stored in large amounts in the body, unused water-soluble vitamins are lost through your urine. Vitamins B6, B9 (folate) B12, and C are water soluble. Fat soluble vitamins can be stored in the body. Excess amounts of fat-soluble vitamins may lead to health problems. Vitamins A, D, and E are fat soluble.
Scientific evidence has linked genetic variations to issues with absorption and conversion of vitamins, minerals and essential fatty acids.
Vitamin A is found in two principal forms of food retinol from animal food sources and carotenes from plant food sources. Vitamin A has various functions in the body. Its main functions are the support of healthy growth and immune function. It also promotes good vision, transcribes genes, aids in bone metabolism and formation of blood components, and has antioxidant activity. The genes in this panel are linked to vitamin A conversion from dietary sources into a form that your body can utilize.
Variations in this panel may result in decreased conversion of vitamin A from dietary sources in the body. This may result in deficiency of vitamin A, which can impair sight, growth and the immune system.
An example of a gene that has been associated with conversion of vitamin A is:
BCMO1: Involved in the conversion of beta-carotene, an organic compound found in plants and fruits, to a form of vitamin A that can be used in the body.
Vitamin B6, also known as pyridoxine, is a water-soluble nutrient that is part of the B-vitamin family. B vitamins, including vitamin B6, help support adrenal function, help calm and maintain a healthy nervous system, and are necessary for key metabolic processes. Vitamin B6 acts as a coenzyme in the breakdown and utilization of carbohydrates, fats and proteins. It is involved in many aspects of macronutrient metabolism; neurotransmitter, histamine, hemoglobin synthesis; and gene expression.
Vitamin B6 is often used with other B vitamins in vitamin B complex formulas.
An example of a gene that has been associated with conversion of vitamin B6 is:
ALPL: Regulates the clearance of vitamin B6 which affects the concentration of vitamin B6 in your body.
Vitamin B9 is also known as folate or folic acid (the synthetic version). Folate must be supplied in the diet in order to synthesize, repair and methylate DNA. It is needed to make the building blocks of DNA and protein and is important in reactions that tell the cell which genes to switch on and off. Folate helps to produce healthy red blood cells, preventing anemia. It is critical during pregnancy and infancy, increases fertility in both males and females, and may decrease the risk of depression and stroke. Folate is water soluble; it cannot be stored in the body’s tissues, so levels must be consistently maintained.
About 85% of the general population carries one or more variants in the main folate metabolism MTHFR gene associated with higher blood homocysteine, a risk factor for cardiovascular disease.
Some examples of genes that have been associated with how well you process vitamin B9 (folate):
MTHFD1: Encodes a protein that possesses three distinct enzymatic activities. Plays a key role in folate metabolism.
MTHFR: Produces an enzyme that adds a methyl group to folate to make it usable by the body. A key player in folate metabolism. Methyl donors are vital for detoxification, DNA repair and synthesis, neurotransmitter and hormone metabolism.
Vitamin B12 (also called cobalamin) plays an important role in the functioning of the nervous system, the brain, formation of blood cells, and DNA synthesis and regulation. Most people who eat animal products are at lower risk of developing a vitamin B12 deficiency.
The health of the intestinal tract plays a key role in vitamin B12 uptake. Conditions such as Helicobacter pylori infection, bacterial overgrowth, and inflammatory bowel disease can lead to malabsorption of vitamin B12.
Variations in this gene panel are associated with lower vitamin B12 levels in the blood. Vitamin B12 deficiency is associated with pernicious anemia, cardiovascular disease, cancer, fatigue, depression and neurodegenerative disorders.
Some examples of genes that have been associated with how well you process vitamin B12:
FUT2: Produces an enzyme found in epithelial tissues, gastrointestinal mucosa and salivary glands. Strongly influences the concentration of circulating vitamin B12.
TCN1: Encodes the binding protein, transcobalamin 1, that has a critical role in vitamin B12 transportation and cellular uptake. Variation reduces transport of cobalamin, resulting in lower plasma vitamin B12 levels.
TCN2: Facilitates the absorption of cobalamin into circulation and thereafter, supports proper cell delivery. Variation is associated with less efficient plasma to cell transport of vitamin B12, and an age-related increase in homocysteine.
Vitamin C, also known as L-ascorbic acid, is a water-soluble vitamin that is naturally present in many fruits and vegetables. Humans are unable to synthesize vitamin C, making it an essential dietary component. Vitamin C improves the absorption of nonheme iron, the form of iron present in plant-based foods.
Although required for the biosynthesis of collagen, and the metabolism of protein, it is best known for its important role in immune function and its potent antioxidant properties. It’s also been shown to prevent or delay the development of certain cancers, cardiovascular disease, and other diseases in which oxidative stress plays a causal role.
Symptoms of vitamin C deficiency include fatigue, dry skin, splitting hair, swelling or bleeding gums, nosebleeds, poor wound healing, problems fighting infection, and severe joint pain.
Some examples of genes that have been associated with how well you process vitamin C: which influences which?
HP: Binds to free hemoglobin molecules formed after hemolysis, to prevent iron-mediated generation of free radicals. Variation in this gene is associated with altered vitamin C. What does the last line mean? Variation in HP? How do these relate to C?
MTHFR: Produces an enzyme that adds a methyl group to B9 (folate) to make it usable by the body. A key player in folate metabolism. Methyl donors are vital for detoxification, DNA repair and synthesis, neurotransmitter and hormone metabolism.
SLC23A1 and SLC23A2: Responsible for tissue-specific absorption of vitamin C.
Vitamin D is a fat-soluble vitamin that is naturally present in very few foods, added to others, and available as a dietary supplement. Your body produces it when ultraviolet rays from sunlight strike the skin and trigger vitamin D synthesis.
Vitamin D is involved in maintaining the proper balance of several minerals in the body, including calcium and phosphate, which are essential for the normal formation of bones and teeth. One of vitamin D’s major roles is to control the absorption of calcium and phosphate from the intestines into the bloodstream. Vitamin D is also involved in several processes unrelated to bone formation, such as modulation of cell growth, neuromuscular and immune function, and reduction of inflammation. It is recommended that you aim to consume 600, and stay below 4000, IU of vitamin D per day.
Some examples of genes that have been associated with how well you process vitamin D:
CYP2R1 and CYP27B1: To become active, vitamins D2 and D3 need to be sequentially hydroxylated by two mitochondrial enzymes. The first enzyme, CYP2R1, acts in the liver and the second, CYP27B1, in the kidneys, forming the active version of vitamin D (1a,25(OH)2D). Variation is associated with decreased vitamin D levels and increased risk for vitamin D insufficiency.
DHCR7: Governs availability of 7-dehydrocholesterol for conversion to vitamin D3 by the action of sunlight on the skin. It has been suggested that genetic variations in DHCR7 affected vitamin D metabolism in recent evolutionary history which helped early humans to avoid severe vitamin D deficiency and enabled them to inhabit areas further from the equator.
GC: Active vitamin D (25-OHD) is bound and transported in the blood by globulin protein (GC) a vitamin D binding protein. GC is established as a strong determinant of 25-OHD levels. 25-OHD is a prehormone that is produced in the liver by the hydroxylation of vitamin D3.
NADSYN1: Encodes nicotinamide adenine dinucleotide synthetase 1 (NADSYN1), has a role in regulation of vitamin D. Variation is associated with an increased risk of vitamin D insufficiency and an abnormal amount of lipids in the blood.
Vitamin E is an essential fat-soluble micronutrient with important antioxidant with anti-inflammatory properties. It protects cells from oxidative damage caused by free radicals that are formed in the body during fat metabolism, exposure to environmental toxins, ultraviolet light from the sun and chemicals.
a-Tocopherol is the most abundant form of vitamin E in humans. It boosts the immune system to fight off invading bacterial and viral infections and plays a vital role in cell signaling, gene regulation and other metabolic processes.
Vitamin E deficiency can lead to the destruction of blood cells, impaired immune function, anemia, and neuromuscular diseases.
Some examples of genes that have been associated with how well you convert vitamin E:
APOA5: Regulates the genes involved in vitamin E metabolism, controls levels of a-tocopherol in blood plasma. Variation is associated with higher plasma vitamin E (a-tocopherol) levels.
CETP: A key determinant in lipid metabolism, facilitates the transport of cholesteryl esters and triglycerides between the lipoproteins. Antioxidants – like vitamin E prevent decrease in CETP by radical induced damage.
F5: Coagulation factor 5 (F5) plays an important role in blood clotting. Studies show that vitamin E can help to reduce the effect of factor 5 variation.
Calcium is the most abundant mineral in the body. It is found in some foods, added to others, available as a dietary supplement and present in some medicines (such as antacids). Calcium is required for blood pressure, muscle function, nerve transmission, intracellular signaling and hormonal secretion, though less than 1% of total body calcium is needed to support these critical metabolic functions. Calcium is very tightly regulated and does not fluctuate with changes in dietary intakes; the body uses bone tissue as a reservoir for, and source of calcium, to maintain constant concentrations of calcium in blood, muscle, and intercellular fluids.
Your body uses calcium to stabilize blood pressure and build strong bones and teeth. When you don’t get enough calcium, you increase your risk of developing diseases like osteoporosis, osteopenia, and calcium deficiency disease.
Some examples of genes that have been associated with calcium absorption:
CASR: Regulates the amount of calcium in the blood. Variation is associated with an increase in calcium.
MCM6: Helps control the LCT gene which is responsible for breaking down lactose. Individuals with variation tend to eat fewer dairy products, limiting a major source of dietary calcium and increasing their risk of calcium deficiency.
VDR: Variation in the vitamin D receptor is linked to an increased risk of low bone mineral density, osteoporosis, and susceptibility to shorter stature.
Choline is an essential nutrient that your brain and nervous system need to regulate memory, mood and muscle control. Choline plays an important role in modulating gene expression, the formation of cell membranes, lipid transport, metabolism, and early brain development. Your body produces choline in the liver, but the amount that your body makes is not sufficient to meet all of your needs. As a result, you must obtain some choline from the diet.
Premenopausal women tend to require less choline than other adults (men and postmenopausal women) because they have higher levels of estrogen which induces the biosynthesis of choline. If your diet is deficient in folate (vitamin B9) necessary for the methylation process, your need for dietary choline will increase because choline will become the primary methyl donor.
An example of a gene that has been associated with choline production:
MTHFD1: Encodes a protein that possesses three distinct enzymatic activities. Plays a key role in choline production.
John Needs More Choline!
John is a 51-year-old overweight man. His blood cholesterol level is well controlled by his diet, which is low in meat, eggs, and saturated fat, and high in fruits, vegetables, and whole grains. John and his personal trainer had been focusing on weight loss and physical exercise. His personal trainer has recently taken the Genetic Testing for Diet, Fitness and Health course and recommends genetic testing.
The trainer and John review the genetic testing reports. In John’s dietPower report, under the Choline test the results are reporting red. They flipped to the back of the report and see that the MTHFD1 gene has a result that is poor. Based on this result the trainer is able to recommend changes that affect John’s long-term health.
Changes Made:
Choline is a nutrient that is closely associated with the development of fatty liver. Choline is a key part of phospholipids, which are needed for fat export from the liver. If there is not enough choline, fat accumulates, and fatty liver develops.
Not everyone needs the same amount of choline from foods, because the body produces larger amounts in some of us than in others. Increased choline intake should not be recommended to just anyone, higher than needed intakes have been found to promote the growth of colorectal adenoma (noncancerous polyps of the large intestines, from which cancer sometimes develops), though not of colorectal cancer.
John carries two variant copies of MTHFD1. The enzyme produced from the variant gene is less effective in making choline. John increases his choline intakes with food to make up for the diminished rate of choline synthesis.
Knowing that John carries two variant copies of this MTHFD1 variant his trainer knows that he will have a hard time meeting his relatively high daily choline requirement of around 8 mg/kg body weight on a diet without eggs and with little meat.
John reintroduces two large eggs contains 125 mg choline each, and grass-fed organic ground beef with four ounces of meat provides 92 mg. He also introduces a bioavailable choline supplement.
Results:
By replacing just a few commonly consumed choline-rich foods with grain products and vegetables (which provide little choline) John had probably eliminated half of his usual choline intake and the resulting choline deficit may well have triggered the accumulation of fat in his liver. John increased his choline intake. He continues to monitor his cholesterol levels to ensure they are in a healthy range.
“I may never have discovered my increased choline need if my trainer had not recommended genetic testing. I recommend genetic testing to all of my friends. Fourteen percent of people have the same MTHFD1 gene variant as me, that means fourteen percent of my friends could benefit from increased choline intake too.”
John – Customer
Iodine is naturally present in some foods, added to others, and available as a dietary supplement. Good sources of iodine include sea vegetables, seafood, dairy products and eggs. Iodine is also present in human breast milk and infant formulas. Thyroid cells are the only cells in the body which can absorb iodine. These cells use iodine to make thyroid hormones which are then released into the blood stream where they control metabolism (conversion of oxygen and calories to energy).
In the absence of sufficient iodine, thyroid stimulating hormone levels remain elevated, leading to a goiter, an enlargement of the thyroid gland that reflects the body’s attempt to trap more iodine from the circulation to produce thyroid hormones. Iodine deficiency can have multiple adverse effects on growth and development and is the most common cause of preventable mental retardation in the world. Iodine deficiency disorders result from inadequate thyroid hormone production secondary to insufficient iodine. During pregnancy and early infancy, iodine deficiency can cause irreversible effects.
An example of a gene that has been associated with iodine transport is:
SLC5A: The sodium iodide transporter family mediates the active transport of iodine into thyroid follicular cells.
The risk of iodine deficiency
Iodine deficiency can lead to goiter, thyroid cancer, or mental retardation. These risks caused by insufficient iodine prompted Canada and the US to iodize salt.
Iron is needed for red blood cells to form. Red blood cells carry oxygen to all parts of the body. Iron works as the oxygen-carrying component of our hemoglobin. It is also needed for myoglobin which supplies oxygen to muscle cells and plays a role in muscle contraction.
Iron is involved in several essential metabolic pathways. Balancing body iron levels is crucial for human health. Imbalance of iron acquisition at the cellular and systemic level can lead to either to iron-overload disease due to excessive iron absorption, or iron deficiency (anemia) due to the inability to maintain normal plasma levels. Imbalanced iron levels are also associated with disorders that include diabetes, inflammation, neurological and cardiovascular diseases.
Studies on iron status report heritability estimates ranging from of 20% to 30%. Iron status is also influenced by a combination of environmental factors such as diet, blood loss, pregnancy, alcohol intake and infections. Variation in this panel is linked to iron deficiency.
Some examples of genes that have been associated with iron absorption are:
G6PD: Increases the vulnerability of red blood cells to oxidative stress when there are variations. Issues include anemia.
TMPRSS6: Encodes the serine protease matriptase-2, required to sense iron deficiency. Associated with iron and hematological traits, including hemoglobin levels.
How much iron?
Iron deficiency is associated with anemia, and low hemoglobin in the blood whereas iron overload is associated with fatigue, arthritis and joint pain, abdominal pain, and bronze skin pigmentation. Pregnant women require more iron.
Healthy individuals with an abundant supply of iron usually absorb about 1 mg of iron from a varied diet. Some individuals tend to absorb much more of the available iron in foods, largely due to a genetic predisposition. The extra iron accumulates slowly and can eventually cause harm.
Hemochromatosis is an inherited condition in which control of iron excess is greatly relaxed. Individuals with hemochromatosis tend to retain excess iron in storage with more than 45% of the iron-binding capacity of their circulating transferrin saturated compared to 25% to 30% in people without the condition. Blood concentration of free iron (not bound to transferrin) is increased above average in people living with hemochromatosis.
Some examples of genes that have been associated with iron regulation are:
HFE: Regulates the production of hepcidin, the “master” iron regulatory hormone that determines how much iron is absorbed from the diet and released from storage sites in the body. When the proteins involved in iron sensing and absorption are functioning properly, iron absorption is tightly regulated. Interacts with other proteins to detect the amount of iron in the body.
SLC17A1: A gene involved in sodium-phosphate co-transport system in the kidney. Associated with the HFE gene.
TF: An iron-binding plasma protein that delivers iron to cells via the transferrin receptor pathway.
Polyunsaturated fatty acids, omega-3 and omega-6 are essential for normal growth and development. They are fats that our bodies need but cannot produce on their own. They participate in the regulation of lipid metabolism, blood pressure, the immune system, inflammatory processes and psychological well-being. They prevent disease and improve sight and brain function. They are critical in the formation of cell membranes, help stimulate skin and hair growth and maintain bone and reproductive system health.
A healthy diet contains a balance of omega-3 and omega-6 fatty acids. Omega-3 can reduce inflammation whereas excess omega-6 can promote inflammation. Despite the importance of consuming both omega-3 and omega-6, too much of either essential fatty acid can impair how the other functions. Most experts agree that the omega 3:6 ratio should range from 1:1 to 1:3. However, the typical American diet contains 15 to 45 times more omega-6 than omega-3. Focus on consuming omega-3 and plant-based forms of omega 6 to restore a healthy, anti-inflammatory fatty acid balance.
Some examples of genes that have been associated with omega-3 fatty acid need are:
ACSL1: Plays an important role in triacylglycerol production and breaking down of fatty acid. Variations is associated with risk of metabolic syndrome via disturbances in fatty acid metabolism.
COX2: Important in multiple body functions including fatty acid degradation, inflammation, pain and body temperature regulation. Some over the counter pain killers block the COX2 pathway. Variations is associated with accumulation of fat and clotting in the blood vessels.
FADS1: Involved in the absorption of omega 3 and omega 6 fatty acids. Variation is associated with altered cholesterol and triglycerides, leading to risk of coronary heart disease.
LPL: Found in the blood vessels of fatty tissue and muscles. It plays a critical role in breaking down triglycerides and the partitioning of fatty acids towards storage or oxidation, involved in obesity.
NOS3: An inflammatory agent and oxidant in free radical-mediated lipid breakdown. It is associated with responsiveness to fatty acids, and beneficial effect of omega 3 supplementation. Variations is associated with decreased protection following damage causing injury to cells.
Getting enough omega-3 for your health
A rare COX2 variation leads to a 5.49 times increased risk of prostate cancer when omega 3 intake is low. A healthy omega-3 intake can mediate this risk. Knowledge is power, practice preventative health.
Flaxseed, ground (1 Tbsp) contains 100% of the daily recommended value for omega-3 fatty acid ALA.
Salmon (75 g) contains 100% of the daily recommended value for omega-3 fatty acid EPA/DHA.