Which genes do we test?
UCP1 (uncoupling protein 1) is one of several genes that affect the rate of metabolism and energy expenditure. Different variants of the UCP1 gene affect the expression of UCP1 protein in brown adipose tissue and thus the rate of thermogenesis. The uncoupling protein UCP1, or thermogenin, breaks down fats and produces heat instead of storing excess energy as fat.
One of the most studied genes for overweight and obesity is the FTO (fat mass and obesity-associated gene). FTO affects the breakdown of fats (lipolysis), cravings for fatty foods and is also involved in regulating appetite and fullness.
The MC4R gene encodes a receptor that is involved in the regulation of hunger and feeling of fullness and thus plays an important role in controlling appetite. Several variations have been found in this gene that affect the risk of overweight and obesity.
CYP1A2 is the major gene involved in caffeine metabolism. This gene affects whether the body processes caffeine fast or slowly.
In people with fast caffeine metabolism, caffeine provides a faster and shorter stimulating effect. Such people are likely to need and tolerate higher amounts of caffeine.
In people with slow caffeine metabolism, caffeine stays in the body longer and also has a longer stimulating effect. It also means that such people are likely to need and tolerate less caffeine.
Variations in the ADORA2A gene affect caffeine sensitivity.
If caffeine sensitivity is high and a person is not accustomed to consuming caffeine or consumes it occasionally and in small amounts, the usual dose of caffeine, equivalent to about 1.5 cups of coffee, can also cause anxiety. In people who are sensitive to caffeine, a higher amount of caffeine (about 3 cups of coffee) can also cause an increase in blood pressure.
If a person is not sensitive to caffeine, drinking coffee and other caffeinated beverages in the usual amount (1-1.5 cups) is unlikely to cause any anxiety. In addition, such people are protected from the increase in blood pressure that can occur in people with other gene variations if they consume higher levels of caffeine.
MTHFR, or methylenetetrahydrofolate reductase, is one of the genes that affects the metabolism and uptake of folate (vitamin B9). The MTHFR gene encodes an enzyme of the same name that is important for the production of the bioactive form of folate, 5-MTHF. Variations in this gene cause varying degrees of decrease in enzyme activity.
MTRR, or methionine synthase reductase, is one of the genes that affects the metabolism and uptake of folate (vitamin B9). The MTRR gene encodes an enzyme of the same name that helps convert homocysteine to methionine.
SLC19A1 is one of the genes that affects the metabolism and uptake of folate (vitamin B9).
The SLC19A1 gene encodes a protein of the same name that is involved in the transport of folate across the cell membrane and is important in the regulation of intracellular folate concentration. Polymorphisms in this gene affect folate and homocysteine levels.
The SOD2 gene encodes an enzyme of the same name, which is one of the primary protections in the fight against reactive oxygen compunds. Variations in this gene may reduce the activity of the enzyme, which increases susceptibility to oxidative damage.
When the activity of the enzyme is lower, the body’s defense system is weaker and the body needs more protection in the form of other antioxidants, mainly from food. Those with less ability to fight oxidative stressors should deliberately increase their intake of antioxidant-rich foods to make up for the deficiency and provide additional protection to the body.
The GPX1 gene encodes an enzyme of the same name, which is one of the primary protections in the fight against reactive oxygen compunds and thus influences the need to consume antioxidants. Variations in this gene may reduce the activity of the enzyme, which increases susceptibility to oxidative damage. When the activity of the enzyme is lower, the body’s defense system is weaker and the body needs more protection in the form of other antioxidants, mainly from food. Those with less ability to fight oxidative stressors should deliberately increase their intake of antioxidant-rich foods to make up for the deficiency and provide additional protection to the body.
The MTHFD1 gene is involved in the need for choline intake. Variations in this gene have been linked to various congenital abnormalities such as neural tube defects, Down’s syndrome, cleft lip and palate, and heart failure.
The PEMT gene, which encodes an enzyme of the same name, affects the metabolism of choline. The enzyme PEMT is involved in the synthesis of endogenous (self-produced) choline in the liver. Carriers of the risk allele of polymorphism in this gene may experience organ dysfunction due to impaired choline synthesis. Because the amount of choline synthesized by the body is already insufficient for the body to function normally, it may be produced in even smaller amounts due to certain genetic variations. Therefore, it is necessary to consume more choline with food to compensate for the decreased choline production.
Variations in the CHDH gene are associated with increased susceptibility to choline deficiency. Variation in this gene affects the activity of choline dehydrogenase CHDH and thus affects the metabolism of choline.
We only get vitamin A in active form from animal food. Plant foods do not contain the active form of vitamin A, or retinol, but its precursor carotenoids, the best known of which is beta-carotene. However, the enzyme BCMO1 is present in the gut and liver, which converts beta-carotene to retinol, allowing us to obtain the active form of vitamin A through plant-based foods. Mutations in the BCMO1 gene can significantly reduce the activity of the enzyme, which means that the body is unable to produce enough active vitamin A from beta-carotene in plant foods.
There is a variation in the FADS1 gene that helps to synthesize useful long-chain omega-3 (EPA, DHA) and omega-6 fatty acids (arachidonic acid) from vegetable fats. These fatty acids are easily obtained by humans from animal food, but are not found in plants in the required form. Vegetable fats can be synthesized in the body by the enzyme FADS1.
A variation has been found in the FADS1 gene that makes this enzyme more or less active. Those who are less active in this enzyme also need foods containing animal fats, especially fish, to eat healthily.
Variation in the MCM6 gene affects the development of primary or genetically inherited lactose intolerance.
The COMT gene encodes an enzyme that breaks down catecholamines, a family of neurotransmitters that includes dopamine, adrenaline, and noradrenaline. Variations in this gene affect, among other things, coping with stress and the pain threshold.
TCF7L2 affects the metabolism of fats, and variations in this gene affect the effect of dietary fats on body composition. The effect of a high or low fat diet on the body depends on it.
The COL1A1 gene has been linked to musculoskeletal disorders.
The COL5A1 gene is associated with endurance and the risk of injury.
Certain variations in FUT2 gene increase susceptibility to infections and affect vitamin B12 status.
The TCN2 gene encodes a protein called transcobalamin, which transports vitamin B12 from the blood to various cells in the body. Variations in this gene affect vitamin B12 levels.
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