GENOTYPE REPORT ANALYSIS

DIET SUPPORT GUIDE

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ACE Angiotensin I-converting enzyme is a small enzyme that plays an important role in blood pressure regulation and
electrolyte balance. Its activity leads to blood vessel constriction and increased blood pressure. The variation tested
Long name: is the Insertion (I)/Deletion (D) variation in which a piece of DNA is either present or deleted from the gene. – the I
Angiotensinogen allele is associated with lower ACE activity

II
the I allele is associated with lower
ACE activity which is not associated
with increased sensitivity to refined
carbohydrates
ID DD
The D variation may increase sensitivity to refined carbohydrates and lead to reduced
insulin sensitivity, this effect is aggravated in overweight individuals. The negative
effects of the D variant on insulin sensitivity may be ameliorated by regular exercise

ADRB2 Beta(2)-adrenergic receptors are expressed throughout the body and serve as receptors for the natural stimulant
hormones called catecholamines epinephrine (adrenaline) and norepinephrine. The polymorphisms tested result
(Gln27Glu)
in amino acid changes, which affect the activity of the receptor and alter the response to these hormones. Beta-
Long name: adrenergic receptors are found in fat cells, liver and skeletal muscle where they are involved in fat mobilization,
Adrenoceptor Beta 2 blood glucose levels and in vasodilation.
(aka: beta-2-
adrenergic receptor) GG (Gly-Gly) AG (Arg-Gly) AA (Arg-Arg)
In studies, the Gly16 allele was associated with weight gain after dieting, especially Not associated with increased
when saturated fats are high. May benefit from higher intensity of exercise for fat loss sensitivity to saturated fats

ADRB2
CC (Gln-Gln) CG (Gln-Glu) GG (Glu-Glu)
(Arg16Gly)
Long name: This genotype is not associated The presence of the Glu27 variant contributes to increased sensitivity to refined
with increased sensitivity to refined carbohydrates. The Glu27 allele is linked to increased fat accumulation especially
Adrenoceptor Beta 2
carbohydrates or fats visceral fat in women. May benefit from higher intensity of exercise for fat loss.
(aka: beta-2- Effects are more pronounced in Glu-Glu homozygotes
adrenergic receptor)

ADRB3 Beta (3)-adrenergic receptors are located mainly in adipose tissue and they play a key role in energy metabolism
being involved in the regulation of lipolysis (fat breakdown) and thermogenesis (process of heat generation using
Long name: fat for energy). The polymorphism tested results in an amino acid change from tryptophan (Trp) to Arginine (Arg)
Adrenoceptor Beta 3 and the Arg version is associated with lower fat breakdown activity. Some studies have shown that the Arg allele
(aka: beta-3- is associated with a high BMI and that Arg allele carriers have more difficulty losing weight under standard weight
adrenergic receptor) loss diet & exercise protocols. The Arg allele has also been shown in studies to be linked to more rapid weight gain
following dieting

CC (Arg-Arg) CT (Arg-Trp) TT (Trp-Trp)

The Agr64 variant is associated with reduced lipolysis (fat cell breakdown) and is Associated with normal fat sensitivity
associated with higher BMI with increased energy intake especially for fats. This and exercise
variant is also associated with a reduced sensitivity to exercise and more intense
exercise may be needed to have the same effect as typical intensity for carriers of the
Trp64 variant. Effects more pronounced in CC (Arg-Arg) homozygotes

APOA2 Apolipoprotein A-II is a component of HDL particles where it is the second most abundant protein – its exact
function though is not yet known but it is associated with obesity risk and type of food intake. The SNP tested is in
Long name: the promoter of the gene so may affect levels of the protein. Studies repeated in several ethnic groups showed that
Apolipoprotein A-II the genetic variation can affect BMI but only when saturated fat in the diet is high.

CC CT TT
In high saturated fat diets, BMI is CT and TT genotypes were not associated with increased BMI in the presence of higher
reported to be significantly higher in CC levels of saturated fat consumption.
homozygote individuals, indicating a
heightened sensitivity to saturated fat.

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FABP2 This protein is found only in cells of the small intestine, the main site for fat absorption and FABP2 is involved in the
uptake and transport of both saturated and unsaturated fatty acids. The polymorphism tested for causes an amino
Long name: acid change from Alanine to Threonine at position 54 in the protein sequence and this version has a two-fold higher
Fatty Acid Binding affinity for long-chain fatty acids. The Thr54 version is associated with increased fat oxidation and studies have
Protein 2 shown that Thr54 may increase fat uptake in the small intestine – for example, it has been shown that after a fatty
meal the levels of triglycerides in the blood are higher in Thr/Thr individuals. The Thr allele has also been linked to
higher levels of total cholesterol & LDL cholesterol and lower levels HDL (so called “good” cholesterol).

GG (Ala-Ala) GA (Ala-Thr) AA (Thr-Thr)

This genotype is not associated with
increased sensitivity to saturated fats or
refined carbohydrates.
A single copy of the Thr allele associated
with a moderately increased sensitivity
to saturated fats. Also contributes to
increased refined carb sensitivity.
Two copies of the Thr allele in the
FABP2 is associated with significantly
increased sensitivity to saturated fats.
Also contributes to increased refined carb
sensitivity.

FTO FTO is a protein that is associated with fat mass and obesity in both adults and children. Its function has not been
completely determined yet. It is an alpha-ketoglutarate-dependent deoxygenase enzyme that repairs alkylated
Long name: DNA and RNA by oxidative demethylation. Activity appears to be affected by eating and fasting. The enzyme is
Fat Mass And Obesity particularly active in areas of the brain that are associated with eating behaviour
Associated
AA AT TT
AA is associated with significantly AT is associated with moderately increased TT is not associated with increased
increased sensitivity to fats. Also may sensitivity to fats. Also may benefit from sensitivity to fats. Does not increase
benefit from increased levels and increased levels and intensity of physical exercise intensity level requirement.
intensity of physical activity activity

PPARG This long named protein is a receptor found in the cell nucleus – PPARG is important in the formation and
development of adipocytes (fat cells). As a nuclear receptor when certain molecules bind to it (e.g. prostaglandins)
Long name: it can itself bind directly to DNA and influence the expression of specific genes. In this way it regulates fatty acid
Peroxisome storage and glucose metabolism. The SNP tested changes the amino acid at position 12 in the protein from Proline
Proliferator-Activated to Alanine, and the Ala version has a reduced affinity for target genes, this means it binds to them less strongly and
Receptor Gamma has a reduced effect on their expression. The Ala form seems to have a protective effect against higher BMI and also
reduced insulin sensitivity, but only under certain conditions.

CC (Pro-Pro) CG (Pro-Ala) GG (Ala-Ala)

Individuals with the Pro/Pro genotype ProAla is not associated with increased AlaAla is not associated with increased
are likely to be more sensitive to sensitivity to refined carbohydrates or sensitivity to refined carbohydrates or
negative effects of fats and refined saturated fats saturated fats
carbohydrates in the diet and to a
sedentary lifestyle. It has also been
reported that higher proportions of
PUFA and/or MUFA (poly & mono-
unsaturated fats) in the diet compared
to saturated fats is linked to a lower
BMI

TCF7L2 TCF7L2 is a transcription factor (a protein which binds to DNA and affects the expression of genes and the amount
of various proteins produced) – it affects a variety of genes. It has not been fully characterised but the protein has
Long name: been implicated in blood glucose homeostasis and the SNP tested affects insulin sensitivity. The polymorphism has
Transcription Factor also been shown to affect weight loss according to diet type with the TT homozygotes responding poorly to high
7-Like 2 fat/low carb diets. The T allele may also make weight loss harder with standard diet & exercise protocols and it is
associated with increased weight gain after dieting. While the T allele, and in particular the TT genotype is linked to
negative insulin/glucose balance the good news is that these effects can be neutralised by the correct diet, reducing
weight if overweight and regular exercise.

CC
CC does not increase sensitivity to
refined carbohydrates or saturated fats.
Not associated with increased exercise
indications
CT
CT indicates a reduction in refined
carbohydrates and an increase in fibre can
be important in weight loss. One copy of
the T allele is associated with a moderately
increased fat sensitivity especially to
saturated fats. Increased intensity exercise
may be more beneficial
TT
TT indicates a reduction in refined
carbohydrates and an increase in fibre
can be important in weight loss. TT is
associated with significantly increased
fat sensitivity especially to saturated fats.
Increased intensity exercise may be more
beneficial

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DETOXIFICATION
CYP1A2*1F CYP1A2 is an enzyme found in the liver that plays an important role in toxin and drug metabolism. It has two alleles,
A and C, with the A allele being associated with rapid metabolising speed. Fast metabolism of HCA and PAH in meat
Long Name: creates a large increase in toxic by-products, which can cause cellular damage.
Cytochrome P450

AA
AA genotypes have two copies of the
rapid version of the enzyme, which
activates more rapidly potentially
toxic substances present in meat
cooked at high temperatures.
AC
AC genotypes have one copy of the
gene that codes for the slow version of
the enzyme and one copy for the rapid
version. The rapid version activates more
rapidly potentially toxic substances
present in meat cooked at high
temperatures.
CC
CC genotypes have two copies of the
gene which codes for the version of
the enzyme which functions well in the
detoxification process..

EPHX1 Epoxide hydrolase 1 is an enzyme that plays an important role in both the activation and detoxification of
toxic chemicals.
Long Name:
Epoxide hydrolase 1

CC
The C allele codes for the slower
activity enzyme. This gives a much
slower increase in toxic by-products,
allowing CC genotypes to consume
slightly more servings (up to 3) of
grilled or smoked meats per week.
CT
The T allele codes for the fast activity
enzyme. In this case, CT genotypes have
a one copy of the fast enzymes, and
are treated as fast metabolisers. These
individuals should therefore limit their
consumption of grilled or smoked meats
to 1-2 servings per week.
TT
The T allele codes for the fast activity
enzyme. In this case, this can cause a
rapid increase in toxic by-products. TT
genotypes should therefore limit their
consumption of grilled or smoked meats
to 1-2 servings per week.

GSTM1 / GSTT1 The GSTM1 and GSTT1 genes create enzymes that are involved in detoxification of compounds, including
carcinogens, environmental toxins and products of oxidative stress. The variation tested is the insertion (I) / deletion
Long Name: (D) variation, in which a piece of DNA is either present or deleted from the gene – the D version is associated with
Glutathione significantly lower enzymatic activity. In this instance, cruciferous vegetable consumption should be increased, as
S-transferase Mu they contain biologically active compounds that can replicate the function of these genes within the body.
1 / Glutathione
S-transferase theta-1 I D
The I version indicates that these enzymes work well. It is not The D (deleted) indicates that no GSTM1/GSTT1 enzyme is
necessary to increase cruciferous vegetable intake. produced. You can compensate by adding extra portions
of cruciferous vegetables and consume on average at least
3-4 portions per week. It is also recommended that you add
frequent consumption of allium vegetables (garlic, onions, etc.)
to your diet.

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MICRONUTRIENTS
SOD2 Superoxide dismutase 2 is an enzyme that functions as an antioxidant within the mitochondria. It catalyses the
breakdown of a toxic substance, superoxide, into less toxic compounds. Overall, SOD2 protects against
Long Name: oxidative stress.
Superoxide
Dismutase 2
CC CT TT
Reduced enzyme activity. Increase Moderately reduced enzyme activity. Good activity of the enzyme. Standard
antioxidant intake. Increase antioxidant intake. antioxidant intake required.

CAT Catalase is an antioxidant enzyme that catalyses the conversion of reactive oxygen species to water. Overall, CAT
helps to protect against oxidative stress.
Long Name:
Catalase

TT TC CC
Reduced enzyme activity. Individuals Moderately reduced enzyme activity. Good enzyme activity. Standard
should increase antioxidant intake. Individuals should ensure a slightly higher antioxidant intake required.
antioxidant intake.

GPX1 Glutathione peroxidase is one of the most important antioxidant enzymes in humans. Its main function is to detoxify
hydrogen peroxide, a toxic by-product of a number of reactions. GPX1 is a selenium-containing enzyme, and as such
Long Name: the version of GPX1 gene an individual has can alter their selenium needs.
Glutathione
Peroxidase 1
TT CT CC
Reduced enzyme activity. Increase Moderately reduced enzyme activity. Good activity of the enzyme.
selenium intake to 105mcg per day. Ensure selenium intake reaches 90mcg
per day.

IL-6 Interleukin-6 is a cytokine that can increase cytokine response. Higher cytokine levels can lead to inflammation.
Different genotypes have been shown to have higher or lower levels of IL-6, both at rest and post exercise. Omega-
Long Name: 3s can potentially reduce the cytokine response, and therefore limit inflammation.
Interleukin-6

CC CG GG
This genotype is associated with This is the heterozygous expression of This is the normal expression of IL-6,
increased cytokine levels. IL-6, and is associated with a moderately and is associated with standard levels of
elevated cytokine response. inflammation.

TNF Tumour necrosis factor is a cytokine that can increase cytokine response. Higher cytokine levels can lead to
inflammation. Different genotypes have been shown to have higher or lower levels of IL-6, both at rest and post
Long Name: exercise. Omega-3s can potentially reduce the cytokine response, and therefore limit inflammation.
Tumor Necrosis
Factor
AA AG GG
This genotype is associated with This is the heterozygous expression of This is the standard expression of TNF,
increased cytokine levels. TNF, and is associated with a moderately associated with normal cytokine levels.
elevated cytokine response.

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MICRONUTRIENTS
MTHFR An enzyme in the methyl cycle, Methylele tetrahydrofolate reductase (MTHFR) is involved in folate metabolism.
Differing versions of this gene create different enzyme efficiency, which may increase B vitamin needs.
Long Name:
Methylene
tetrahydrofolate
reductase CC CT TT
Individuals with this genotype have Individuals with this genotype have a Individuals with this genotype have
the enzyme working with normal reduced enzyme (about 60% efficiency) a significantly reduced (as low as 20%
activity. compared to the 677CC genotype. This efficincy) enzyme activity compared
has been associated with increased to the 677CC genotype. This has been
homocysteine levels when dietary intake associated with increased homocysteine
of folic acid is too low. The reduced levels when dietary intake of folic acid
activity can be compensated for by is too low. The reduced activity can be
increased dietary folic acid, vitamin B6 compensated for by increased dietary
& B12. folic acid, vitamin B6 & B12.

VDR Vitamin D Receptor is, as the name suggests, a receptor for vitamin D. Polymorphisms in the gene can affect the
absorption of vitamin D, which has an effect on other processes within the body, including calcium absorption and
Long Name: bone structure and strength.
Vitamin D Receptor

CC CT TT
The C allele is associated with impaired calcium absorption and bone structure. Individuals with two copies of the T
Individuals with at least one C allele should increase their vitamin D and calcium allele show no impairment of calcium
intake above the recommended daily allowances. absorption or bone structure. These
individuals should maintain calcium and
vitamin D intakes at the current RDA.

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SENSITIVITIES

ACE Angiotensin converting enzyme is an enzymes that is involved in both blood pressure control and electrolyte
balance. Its activity leads to blood vessel constriction, and an increase in blood pressure. The variation tested is
Long Name: the Insertion (I) or Deletion (D) variation, where a piece of DNA is present or deleted from the gene. The I version is
Angiotensin-I associated with lower ACE activity.
Converting Enzyme
II ID DD
The I allele is associated with increases in blood pressure, particularly when sodium The D allele is associated with a reduced
is present in high levels in the diet. These individuals are therefore classed as risk of developing hypertension, and
sensitive to salt. individuals generally have a lower risk of
developing hypertension with higher salt
intakes than ID and II individuals.

AGT Angiotensin is part of the renin-angiotensin system, which is involved in both blood pressure and electrolyte
balance control. Angiotensin activity causes blood vessels to constrict, increasing blood pressure.
Long Name:
Angiotensin

CC CT TT
The presence of the C allele is associated with an increased risk of hypertension, The T allele is not associated with an
particularly in the presence of high salt intake. Individuals should therefore limit increased likelihood of developing
their salt consumption. hypertension.

ADH1C Alcohol dehydrogenase is involved in the metabolism of alcohol. The 1C version that tested for is a subsection of
a larger group of alcohol dehydrogenase genes, which create the enzymes to metabolise alcohol. The G allele is
Long Name: associated with slow alcohol metabolism speed.
Alcohol
Dehydrogenase 1C
AA AG GG
Fast metaboliser of alcohol. Slow metaboliser of alcohol. This is associated with higher levels of HDL (good)
This genotype is not associated cholesterol in moderate drinkers (up to 3 units per day).
with higher levels of HDL (good)
cholesterol in moderate drinkers.
This effect is neutral, as opposed to
negative.

CYP1A2*1F Cytochrome P450 is an enzyme produced by the liver to metabolise caffeine. The enzyme is responsible for about
95% of all caffeine metabolism within the body. People can tolerate caffeine to differing amounts, and this is, in
Long Name: part, down to how quickly they can metabolise caffeine. Polymorphisms in the CYP1A2 gene can have an effect on
Cytochrome P450 caffeine metabolism speed.

AA
Fast Metabolisers - AA genotypes
have two versions of the rapid (A)
allele. As such, they can usually
handle slightly more caffeine per
day that other genotypes.
AC CC
Intermediate metabolisers – AC genotypes Slow metabolisers – CC genotypes have
have one copy of the rapid (A) allele and two copies of the slow
one copy of the slow (C) allele. As such,
they should aim to reduce their caffeine (C) allele, and as such should limit their
intake. caffeine intake.

VDR Vitamin D receptor gene plays a role in the bone mineral density (BMD) of individuals, especially post-menopausal
women. Caffeine can cause bone mineral density loss at high intakes, but different VDR genotypes have a increased
Long Name: risk of BMD loss with lower intakes. Knowing your VDR genotype can allow you to modify your caffeine intake to
Vitamin D Receptor reduce your BMD loss. A low BMD is associated with an increased fracture and osteoporosis risk.

CC CT TT
Individuals with the CC genotype Individuals with at least one copy of the T allele show no association of caffeine intake
are at an increased risk of having with bone mineral density loss. They should therefore attempt to stay within typical
a low bone mineral density with daily guidelines for caffeine intake.
caffeine intakes of above 300mg.
They should therefore aim to
consume less than 200mg per day.
This effect is especially pronounced
in post-menopausal women.

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FOOD INTOLERANCES

LCT The LCT gene is responsible for creating lactase, the enzyme that digests lactose. Lactose is the sugar found in milk
products. Individuals without lactose tolerance can suffer from symptoms such as gas, bloating diarrhoea upon
Long Name: consuming foods containing lactose.
Lactase Gene

TT CT CC
Lactose tolerant - The presence of the T allele is associated with the ability to Lactose intolerant - This genotype is
digest lactose. associated with a lack of ability to digest
lactose.

HLA The group of genes associated with the Human Leukocyte Antigen play a role in allowing the immune system to
distinguish between self and non-self cells. Coeliac disease is an autoimmune condition that affects the small
Long Name: intestine. Certain versions of the HLA genes can increase the risk of an individual developing Coeliac disease.
Human Leukocyte
Antigen
DQ2 DQ8 DQ7
The presence of one or more of these genes increases the risk factor of developing If the DQ7 gene is present without the DQ2
coeliac disease to 1/35. or DQ8 genes, then the individual has a
reduced Coeliac disease risk of 1/2000.

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