EXAMPLE REPORT
DETOXIFICATION

The detoxification process in the body is governed primarily by the GST family of enzymes.  Glutathione S-tranferases are responsible for catalysing reactions in which the products of Phase I metabolism are conjugated with glutathione, thus making them more water soluble and more easily excreted from the body through sweat and urine. Cruciferous and allium vegetables help increase the activity of your detoxification system, which aids the removal of harmful substances from your body.

PHASE 1 DETOXIFICATION

CYP450 Family : The First Line of Defence In Phase I detoxification, enzymes, known collectively as the cytochrome P-450 system, use oxygen to modify toxic compounds, drugs, or steroid hormones.  Many toxins must undergo Phase II detoxification after a reactive site has been formed.  Because there are many different toxic compounds the body might encounter, there are many variants of Phase I enzyme

The CYP genes encodes a phase I cytochrome P450 enzyme that converts environmental procarcinogens such as PAHs and aromatic amines to reactive intermediates having carcinogenic effects. In addition, CYP1A1 is involved in the oxidative metabolism of oestrogens, which may play a critical role in the aetiology of breast and prostrate cancer

GENESNPResultDescription
CYP1A1rs1048943TTAssociated with SLOWER conversion of oestrogens to 2OH oestrogen
CYP1A2rs762551AAAssociated with FAST caffeine metabolism
CYP1B1rs1056836CGAssociated with up-regulated conversion of oestrogens to 4IH oestrogens
CYP2A6
CYP2C9rs1057910AAAssociated with normal substrate metabolism of warfarin & ibuprofen
CYP2D6
CYP2E1
CYP3A4rs4986910AAAssociated with normal activity of conversion of oestrogen to 16alpha-OHoestrogen
CYP3A5GGGG Alleles are NON-EXXPRESSORS and therefore unable to metabolise some common medications influences the synthesis of cholesterol, steroids and other lipids. The enzyme metabolizes drugs such as olanzapine, tacrolimus, nifedipine and cyclosporine as well as the steroid hormones testosterone, progesterone and androstenedione
EPHX1rs1051740CTIntermediate enzyme between CYP450 and phase 2 liver. T alleles are the FAST metabolisers within Phase 1.  Avoid foods cooked at a HIGH temperature.
 
ALCOHOL

GENESNPResultDescription
ADH1Brs6413413AAAssociated with alcohol metabolism
ADH1Brs283413GGAssociated with alcohol metabolism
ADH1Crs2300478TTAssociated with alcohol metabolism & restless leg syndrome
ADH1Crs283413GGAssociated with alcohol metabolism & neurodegenerative diseases
ALDH2rs671GGReduced enzyme function. Associated with alcoholic flush
 
PESTICIDES

GENESNPResultDescription
PON1rs662AAAssociated with HIGHER risk of coronary heart disease.
PHASE 2 DETOXIFICATION:
GLUTATHIONE Ability to recycle vitamin C. Also, affects carcinogenic intermediate metabolites, links cancer and oestrogen metabolism.
 
GENESNPResultDescription
GSTM1 Glutathione S-transferase M1 is the most biologically active member of the GST superfamily and is involved in Phase II detoxification in the liver. It is responsible for the removal of xenobiotics, carcinogens, and products of oxidative stress.
GSTM1rs4147565Not setAssociated with Glutathione S-Transferase
GSTM1rs9642880GTAssociated with a number of cancer, increased susceptibility to environmental toxins. Poor recycling of vitamin C, low DIM
GSTP1 Oxidative stress is a risk factor shared by most disorders implicating GST, and it appears that the efficiency of the GSTP1 enzyme may have an impact on the development and prognosis of diseases influenced by oxidative stress. GSTP1 is the most abundant GST subtype in the lungs and is known to metabolize many carcinogenic compounds
GSTP1rs124874Not set
GSTT1 is a member of a super family of proteins that catalyse the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds.
GSTT1rs2266637GGAssociated with GOOD re-cycling of vitamin C
COMT: rs4680 breaks down dopamine, oestrogen and other catecholamines.  Reflects resilience, oestrogen metabolism, homocysteine inhibition of COMT, breast cancer

Soluble catechol-O-methyltransferase (S-COMT) helps control the levels of certain hormones and is involved in the inactivation of the catecholamine neurotransmitters (dopamine, epinephrine, and norepinephrine). The enzyme introduces a methyl group to the catecholamine, which is donated by S-adenosyl methionine (SAM). Any compound having a catechol structure, like catecholestrogens and catechol-containing flavonoids, are substrates of COMT.

COMTrs4633CTAssociated with LOW COMT activity, SLOW breakdown of dopamine, epinephrine, norepinephrine and oestrogen.  May require a higher level of magnesium
COMTrs4680AGREDUCED COMT activity.  Associated with HIGH dopamine and catecholamine levels.  Vulnerable to stress and anxiety.
 
GLUCURONIDATION
 

GENESNPResultDescription
UGT1A1rs4124874CCAssociated with conjugation of hormones and bilirubin levels. CC Allele is associated with low UGT1A activity.
 
SULPHONATION

GENESNPResultDescription
SULT1A1Rs1042157AAAssociated with SLOW conjugation of phenolic compounds including steroid hormones, catecholamines and phenolic drugs.
 
ACETYLATION

GENESNPResultDescription
NAT1Rs4986782GGNormal acetylation.  Associated with carcinogen activity
NAT2 Phase II detoxification, considers intermediate metabolites, linking cancer with oxidative stress
 NAT2rs1041983gs156Associated with NORMAL metabolizer
 CTAssociated with NORMAL  metabolizer
NAT2rs1801280CTAssociated with NORMAL metabolizer
NAT2rs1799930GGAssociated with NORMAL metabolizer
NAT2rs1208GG
NAT2rs1799931GG
 
BH4

GENESNPResultDescription
MAOARs6323GGHIGH activity – LOW levels of neurotransmitters, associated with inward anger, depression and risk aversion.
METHIONINE CYCLE
 
GENESNPResultDescription
MTHFR  Methylenetetrahyrdofolate Reductase is a key enzyme in the folate metabolism pathway – directing folate from the diet either to DNA synthesis or homocysteine re-methylation.

Number of risks. Complex. MTHFR rs1801131 is involved in converting 5-methylfolate (5MTHF) to tetrahydrofolate (THF). Unlike MTHFR C677T, this mutation does not lead to elevated homocysteine levels.

MTHFRrs1801131TTAssociated with NORMAL methylation and impact on neurotransmitter synthesis
T and C allele on rs1801133 are associated with lower production of the enzyme for recycling of homocysteine to methionine.  Homozygous = 70-90% reduction of MTHFR function
MTHFR (C677T)rs1801133GGNORMAL MTHFR function
MTHFRrs17367504AALOW risk of hypertension associated with this genotype
MTR 2756 Methionine Synthase encodes the enzyme that catalyses the remethylation of homocysteine to methionine.
MTRrs1805087AGAssociated with ELEVATED homocysteine levels.
MTRR 66 Methionine Synthase Reductase catalyses methylcobalamin, an essential cofactor of methionine synthase (MTR), which is essential for maintaining adequate intracellular pools of methionine and is also responsible for maintaining homocysteine concentrations at non-toxic levels.
MTRR 66rs1802059AGAssociated with REDUCED ability to recycle vitamin B12 causing elevated homocysteine levels.
SOUXrs705703CCNORMAL SOUX activity, low sulphite sensitivity.
CTHrs1021737GGNORMAL conversion of cysteine should lead to normal glutathione conversion.
CBS Cystathionine beta synthase catalyses the conversion of homocysteine to cystathione and is directly involved in the removal of homocysteine from the methionine cycle, thus any alterations in its activity could affect homocysteine levels.
CBSrs234706GGNORMAL Activity, no build-up of ammonia in gut
AHCYrs819147TTNORMAL breakdown of S-adenosyl homocysteine (SAH) to adenosine & homocysteine.

 

 

 
LIPID METABOLISM

Heart health depends on a complex balance of environmental, dietary and genetic factors. Certain genes influence LDL and HDL cholesterol levels; higher levels of LDL, or ‘bad’ cholesterol, and lower levels of HDL or ‘good’ cholesterol, are associated with a higher risk of heart disease.

GENESNPResultDescription
LPL 1595 Lipoprotein lipase is anchored to the vascular endothelium and removes lipids from the circulation by hydrolysing triglycerides present in VLDL into free fatty acids. The 1595 C>G variant is a strong indicator of body fat, fat distribution, plasma lipids and insulin concentrations
LPL 1595Rs328CTAssociated with a somewhat increased sensitivity to dietary fats.  Reduction of total fats and elimination of processed/trans. Oxidative fats is recommended.
CETP 279 Cholesterol esther transfer protein plays a key role in the metabolism of HDL and mediates the exchange of lipids between lipoproteins, resulting in the eventual uptake of cholesterol by hepatocytes (reverse cholesterol transport). High plasma CETP concentration is associated with reduced HDL-C concentrations. CETP is a strong and independent risk factor for CAD
CETP 279rs5882AAAssociated with INCREASED blood pressure, less longevity, LESS GOOD cholesterol, and disease relative to aging.
CETP 279rs708272CTAssociated with PROTECTIVE gene, lowered risk of  coronary heart disease.  blood pressure, less longevity, and disease relative to aging.
CETPRs9923854Not setAssociated with blood pressure, less longevity, and disease relative to aging.
APOC3 3175  C>G  Apolipoprotein C3 plays an important role in cholesterol metabolism. It inhibits lipoprotein lipase and hepatic lipase, delaying catabolism of triglyceride-rich particles. Relates to longevity.
APOC3
APOE E2/E3/E4 Genetic Variation: E4 (112Arg/158Arg) Apolipoprotein E has a multi-functional role in lipoprotein metabolism and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. Two SNPs result in three allelic isoforms, affecting the protein conformation and thus the receptor binding activity and lipoprotein preference of the APOE protein.

C;C Allele More likely to gain weight if taking olanzapine

APOErs440446GGAssociated with INCREASED risk of biliary issues, esp in men
APOE2rs7412AGAssociated with HIGH RISK of Alzheimer’s, LDL cholesterol, heart disease.
APOA4rs5092CCAssociated with RAISED RISK
APOA2rs5082TTAssociated with NORMAL risk of inflammation as a result of consuming unhealthy fats.  Avoid processed, trans, oxidative fats.
FADS2 conversion of ALA to DHA
FADS2rs1535AAAssociated with NORMAL conversion of ALA to DHA
ADRB2 Variants mean a weakened ability to release fat when sugar and refined carbohydrates are consumed because increased insulin status prevents cellular receptors associated with this gene from opening and releasing fat for energy
ADRB2rs1042714GGNOT RELEVANT: The C allele is associated with high cholesterol.  Reduction of total fats and elimination of processed/trans/oxidative fats is recommended.
ADRB3 is involved in the breakdown of fats in adipose fat cells and thermogenesis in muscle tissue and associated with the adrenaline and noradrenaline activation of energy production. 
ADRB3rs4994TTNOT RELEVANT: The C allele is associated with higher levels of obesity in the presence of dietary fats.  Reduction of total fats and elimination of processed/trans/oxidative fats is recommended.
INFLAMMATION

Inflammation is a normal immune response and an essential step in tissue healing. The release of these inflammatory substances is controlled by genes that govern inflammation. However, when these genes are not ‘switched off’ the inflammatory response continues. An increasing number of common disorders, such as obesity, heart disease, arthritis and inflammatory bowel disease have been associated with chronic low-grade inflammation

 

GENESNPResultDescription
IL-6 -174,

Interleukin 6 is a pro-inflammatory cytokine that plays a crucial role in inflammation and regulates expression of CRP. Low-grade chronic inflammation is associated with obesity and visceral fat deposition, insulin resistance, dyslipidaemia and increased risk for cardiovascular disease.

(Where C;G Allele is present) The C Allele is associated with a positive effect of raised omega-3 consumption actively modulating immune inflammatory responses thus in reducing inflammation. Co-factors are also advised.  Also, reduce other dietary and lifestyle promotors of inflammation increase anti-inflammatory nutrients and foods. 

IL-6 -174,rs1800795/6GGLOW risk of inflammation
TNFA -308,

Tumour necrosis factor-α (TNFα), a proinflammatory cytokine secreted by both macrophages and adipocytes has been shown to alter whole body glucose homeostasis, and has been implicated in the development of obesity, obesity-related insulin resistance and dyslipidaemia.

The A allele is associated with higher cytokine production and chronic inflammation.

Omega-3 has been shown to lower serum levels of TNF.  Reduce other dietary and lifestyle promoters of inflammation, increase anti-inflammatory nutrients and foods. 

TNFA -308rs1800629GGNOT RELEVANT: The A allele is associated with higher cytokine production and chronic inflammation.

Omega-3 has been shown to lower serum levels of TNF.  Reduce other dietary and lifestyle promoters of inflammation, increase anti-inflammatory nutrients and foods.

OXIDATIVE STRESS

Free radicals are a normal by-product of the body’s energy-generating biochemical processes.  They are highly reactive with other molecules, and can damage DNA, proteins and cellular membranes.  Anti-oxidants are free radical scavengers that interact with the free radical to ensure it is no longer a reactive molecule.  Anti-oxidants are found naturally in the body in the form of enzymes, but can also be consumed in a wide variety of foods, especially vegetables and fruits, as well as green tea and red wine.

The more total alleles across these enzymes, the more impacted their free radical clearance processes will be and the more susceptible they will be to oxidative stress.

GENESNPResultDescription
eNOS (G894T) Function: The endothelium-derived nitric oxide (NO) plays a key role in the regulation of vascular tone and peripheral resistance. It also has vasoprotective effects by suppressing platelet aggregation, leukocyte adhesion and smooth muscle cell proliferation.
eNOSrs3918188Not set
MnSOD/SOD2 C lowered enzyme function. Function: antioxidant; consider oxidative stress, inflammation, selenium. The SOD2 enzyme destroys the free radicals which are normally produced within cells and which are damaging to biological systems. The enzyme thus has important anti-oxidant activity within the cell, especially within the mitochondria.
MnSOD/SOD2Rs4880AAAssociated with NORMAL ability to neutralise superoxide and NO increased susceptibility to free radical damage.
GPXI Good glutathione production.T = lowered enzyme function)rs1050450CCT Allele is associated with LOWERED production of glutathione peroxidase, and an increase in selenium required.  90mcg is recommended
CAT T lowered enzyme function.rs1001179Not in 23&Me
SOD3 or Arg231Gl Extracellular superoxide dismutase is the extra-cellular form of superoxide dismutase, and the major antioxidant enzyme system of the vessel wall.
SOD3rs1799895CC
INSULIN SENSITIVITY

Insulin is a hormone that stimulates the uptake of glucose from the diet into the blood. Those with lowered sensitivity to insulin have a limited ability to respond to the hormone’s action. The scientific literature suggests that insulin insensitivity or resistance may play an important role in some of the most common disorders – including, obesity, type 2 diabetes, high blood pressure, heart disease and disrupted fat metabolism.

 
GENESNPResultDescription
PPARG Pro12A1a (Genetic Variation: Pro12Ala C>G) Peroxisome proliferator-activated receptor gamma is believed to be involved in adipocyte differentiation. It is a transcription factor activated by fatty acids, which has a major role in adipo-genesis and expression of adipocyte specific genes. It is also involved in the regulation of glucose and lipid metabolism and has been identified as the nuclear receptor for the thiazolidinedione class of insulin sensitizing drugs.

C allele plays a role in the unfavourable formation of fat cells and lipid metabolism as well as the development of type 2 diabetes.  Elimination of all refined carbohydrates and overall reduction in carbohydrate intake is recommended. 

PPARGrs1801282CCAssociated with NORMAL fat in liver
TCF7L2 (Genetic Variation: rs7903146 C>T) Transcription factor 7-like 2 (TCFL2) gene encodes a transcription factor that regulates blood glucose homeostasis. This SNP influences both insulin secretion and resistance and has been associated with an increased risk of insulin resistance and type 2 diabetes mellitus.
TCF7L2rs7903146CTAssociated with NO INCREASED risk of type 2 diabetes.
FTO (Genetic Variation: rs9939609 T>A) Fat-mass-and-obesity-associated (FTO) gene is present at high levels in several metabolically active tissues, including, heart, kidney, and adipose tissue, and is most highly expressed in the brain, particularly in the hypothalamus which is concerned with the regulation of arousal, appetite, temperature, autonomic function, and endocrine systems. It has been suggested that the FTO gene plays a role in appetite regulation and that it is associated with energy expenditure, energy intake, and diminished satiety.
FTOrs9939609CTAssociated with HIGHER BMI, and susceptibility to type 2 diabetes.
SLC23A2 Thr110IIe rs12479919CCAssociated with NORMAL absorption and plasma or Vitamin C
BONE HEALTH

Our bones are not a fixed structure. Our cells work continuously to dissolve old bone and create new bone tissue. After the age of 30, both men and women start losing bone mass; the loss is particularly marked in women after menopause. According to latest research both nutrition and genetic factors play an important role in determining bone health.

Peak bone mass is to a great extent genetically determined. The vitamin D receptor (VDR) gene accounts for around 70% of the entire genetic influence on bone density, playing an important role in calcium homeostasis, bone cell growth and differentiation, and intestinal calcium absorption

 

GENESNPResultDescription
VDR Fok1 (Genetic Variation: Fok1 T>C) Peak bone mass is to a great extent genetically determined. The vitamin D receptor (VDR) gene accounts for around 70% of the entire genetic influence on bone density, playing an important role in calcium homeostasis, bone cell growth and differentiation, and intestinal calcium absorption.
VDR Fok1
VDR Taq1 (Genetic Variation: Taq1 C>T) Peak bone mass is to a great extent genetically determined. The vitamin D receptor (VDR) gene accounts for around 70% of the entire genetic influence on bone density, playing an important role in calcium homeostasis, bone cell growth and differentiation, and intestinal calcium absorption.
VDR Taq1
VDR Bsm1 (Genetic Variation: Bsm1 C>T (G>A) ) Peak bone mass is to a great extent genetically determined. The vitamin D receptor (VDR) gene accounts for around 70% of the entire genetic influence on bone density, playing an important role in calcium homeostasis, bone cell growth and differentiation, and intestinal calcium absorption.
VDR Bsm1
COL1A1 1546 (Genetic Variation: 1546 G>T) Type 1 Collagen is the major protein of bone, and is formed from 2 collagen alpha 1- and one collagen alpha 2 chains
COL1A1 1546
 
AGEING

GENESNPResultDescription
BHMTrs3733890AGAssociated with shorter telomere length, may effect longevity
CETPrs9923854TTNEGATIVELY associated with longevity
SLCO1B1rs4149056TTLOW risk associated with myopathy with statin use
VDRrs1544410TTAssociated with decreased risk of osteoporosis
 
ALLERGY & IMMUNITY

GENESNPResultDescription
ABCG2rs2231142GTAssociated with HIGHER serum uric acid concentration and gout
FLGrs61816761GGNEUTRAL genotype.  Associated with susceptibility to eczema
HLA-DQA1rs2187668CCNO increased risk.  Associated with susceptibility to celiac
HLA-DQB1rs2187668AANO reported susceptibility to type 1 diabetes
HNMTi3000469CCAssociated with NORMAL histamine metabolism
LCTrs4988235GGLikely to be Lactose INTOLERANT due to lack of lactase enzyme.
 
CARDIOVASCULAR

GENESNPResultDescription
ADBR2rs1042714GGINCREASED risk associated with raised cholesterol
F5rs6025CTFactor V Leiden – increased risk of venous thromboembolism (blood clot)
 

METABOLISM & WEIGHT MANAGEMENT

GENESNPResultDescription
FTOrs9939609ATAssociated with HIGHER BMI & susceptibility to yype 2 diabetes
LEPRrs8179183GGFAST metaboliser, associated with an INCREASED resting metabolic rate.
OPRM1rs2799972AGAssociated with INCREASED risk of emotional eating.
TAS2R38rs1726866AGAssociated with being MORE likely to over-eat
TCF7L2rs7903146CTAssociated with INCREASED risk of type 2 diabetes

 

SPORTS PERFORMANCE
GENESNPResultDescription
COL5A1rs12722No result
CRPrs3093066CCHIGHLY prone to inflammation and slower injury recovery
EDN1rs5370GTIncreased cardiorespiratory fitness benefits endurance sports