[go: up one dir, main page]

0% found this document useful (0 votes)
89 views32 pages

?SNP Report

Download as pdf or txt
Download as pdf or txt
Download as pdf or txt
You are on page 1/ 32

Dr.

James Robart Date of Analysis: XX/XX/XXXX


912 N Missouri Street GVA Version: 240
Potosi, Missouri 63664

Jim@DrRobart.com

Patient: First/Last Name

Variants that Impact Gut Health & Digestion


For those with health challenges, gut inflammation, dysbiosis and digestive disturbances are often common. If there are issues here, this may be step number one of
many steps in supporting the patient/client. Proper function of the intestinal tract is critical for the absorption of nutrients. Unfortunately, there are many genetic
variants that can impact digestive function.

Inflammation from peroxynitrite can damage the delicate intestinal lining. SNPs that reduce Glutathione, SOD, NOS and BH4, as well as the CBS and BHMT SNPs that
will increase ammonia, will increase the peroxynitrite and cause damage to the gut.

When there are low methyl groups as a result of MTHFR, along with SNPs in HNMT and ABP1 (that both degrade histamine) the high histamine will create higher
levels of zonulin, which irritates the intestinal tract and potentially contributes to candida and leaky gut.

Variants in the HLA genes may contribute to gluten intolerance, and further gut inflammation.

And finally, variants in the FUT2 gene may impact the production of prebiotics, to support probiotics. Variants here may cause disruption in the good bacteria of the
gut and impair B12 assimilation. Impaired B12, among other things, may reduce the production of methyl groups, thus resulting in less than optimal histamine
clearing.

All of these factors should be considered when assessing gut health. Supporting gut health, if an issue, is likely the first step needed in supporting the patient/client.
This would include, but are not limited to, reducing histamine, eliminating gluten if an issue, reducing peroxynitrite by supporting variants in SOD, GSH, NOS, CBS,
BHMT, and creating BH4.

Gene Name Variants Metrics


HLA Product Name SNP Total Lab Total Symptoms
Histamine Scavenger 4.17 #N/A #N/A
HLA-DQA2 (rs2858331) AA 35.1% Variants in these genes may increase the chances of Celiac Disease or gluten intolerance. Other
factors that may impact gut health are FUT variants that impact probiotics, HNMT and ABP1
HLA-DQA1 (rs2187668) CC 79.0%
variants that lessen histamine degradation and consequently cause zonulin production, low
HLA-DQA2 (rs7454108) 1 TC 19.3% folate or high peroxynitrite.
HLA-DQB1 (rs7775228) TT 74.4%
HLA-DRA (rs2395182) 1 GT 32.5%
With two HLA variants, there is a possibility for gluten intolerance, especially if it's the HLA DQA1.
HLA Enzymes 80% Additionally, if the gut is damaged from peroxynitrite and zonulin, gluten sensitivity can be
worse.
KIAA1109
KIAA1109 (rs6822844) GG 72.7% The KIAA1109 gene is associated with susceptibility to celiac disease. Celiac disease is a common
small intestinal inflammatory condition induced by dietary wheat, rye, and barley. Variants in this
KIAA1109 (rs13119723) AA 72.3%
gene may increase the chances of Celiac Disease.

KIAA1109 100%

Page 1 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
MCM6
MCM6 (rs182549) 2 TT 35.3% The MCM6 gene is a protein coding gene. Single nucleotide polymorphisms in this gene can
impact the neighboring LCT gene. The LCT gene provides instructions for making an enzyme
MCM6 (rs4988235) 2 AA 34.7%
called lactase.

Lactase breaks down lactose found in milk and dairy products into smaller sugars called glucose
and galactose for absorption. The body then absorbs these simpler sugars into the bloodstream.
Lactose intolerance in adulthood is caused by gradually decreasing activity of the LCT gene after
infancy.

Variations in the MCM6 genes cause the LCT gene to remain active during adulthood. Because of
this, individuals with increased variants are more likely able to digest the lactose found in milk
and dairy products.
There are 4 variants in the MCM6 gene. With 4 variants, there is a high likelihood of being lactose
Lactose Intolerance 0% tolerant.

Peanut Allergy
HLA-DQA2 (rs9275596) 1 TC 43.9% Studies have shown that peanut allergies are one of the most common food allergies.
HLA-DRA (rs7192) 1 GT 45.4%
Peanuts are not the same as tree nuts such as almonds, cashews, and walnuts. Peanuts grow
underground and are part the legume family. Other examples of legumes include beans, peas,
lentils and soybeans.

Variants in rs9275596 and rs7192 are associated with the increased susceptibility of developing a
peanut allergy is individuals with European ancestry.
With two variants, this individual has an increased risk of developing a peanut allergy.
Peanut Allergy 50%

Caffeine Consumption
AHR (rs4410790) 1 TC 46.6% The AHR gene contains the instructions for a protein that helps regulate the amount of certain
proteins. One of these proteins includes an enzyme, called CYP1A2.
CYP1A2 (rs2472297) 1 CT 32.2%
The CYP1A2 gene contains the instructions for an enzyme that breaks down many substances,
including caffeine. This enzyme is one of the many cytochrome P450 enzymes.

Studies have shown that variants in these SNPs related to a higher consumption of caffeine.
With 2 variants it is possible that this individual consumes an increased amount of caffeine
Caffeine Consumption 50%

Caffeine Metabolization
CYP1A2 C164A (rs762551) 2 AA 50.0% The CYP1A2 gene encodes a member of the cytochrome p450 family of proteins. These proteins
metabolize nutrients and drugs. One well known substrate of CYP1A2 is caffeine

Caffeine is a bitter substance that can be found in coffee, tea, soft drinks, chocolate, kola nuts,
and certain medicines. It has many effects on the body's metabolism, including stimulating the
central nervous system.

Studies have shown that individuals with variants in this gene are faster metabolizers of caffeine
and therefore will feel less of a stimulating effect from caffeine.
With 2 variants this individual is likely a fast caffeine metabolizer.
Caffeine Metabolization 0%

Page 2 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
BCMO1
BCMO1 A379V (rs7501331) CC 60.3% BCMO1 or Beta-Carotene Oxygenase 1 is a protein coding gene. The protein encoded by this
gene is a crucial enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative
BCMO1 R267S (rs12934922) 1 AT 48.9%
cleavage of beta-carotene into two retinal molecules. Vitamin A metabolism is important for vital
BCMO1 (rs4889294) 2 CC 20.1% processes such as vision, embryonic development, and skin protection. Polymorphisms in this
BCMO1 (rs11643312) GG 47.9% gene can affect serum retinol concentration.

BCMO1 (rs6564862) CC 44.8% The most significant SNPs are BCMO1 A379V rs7501331, BCMO1 R267S rs12934922, and BCMO1
BCMO1 (rs7192178) AA 35.6% rs4889294

BCMO1 (rs8046134) GG 60.4% Research has found that double mutations in both BCMO1 A379V rs7501331 and BCMO1 R267S
BCMO1 (rs6564863) 1 TC 43.9% rs12934922 can cause a substantial reduction in the conversion of beta-carotene into retinol l in
Females.
BCMO1 (rs117523015) AA 97.5%
BCMO1 (rs7202895) AA 91.6% Our Phase II Lyme study also determined that variants in BCMO1 R267S rs12934922, and BCMO1
rs4889294 were much higher in patients with Lyme Disease.
BCMO1 (rs117887860) CC 99.6%
BCMO1 (rs4889298) CC 26.2%
BCMO1 (rs11865869) AA 60.4%
BCMO1 (rs3803651) 2 GG 5.4%
BCMO1 (rs11647597) 2 GG 5.5%

BCMO1 78%

FUT2 Product Name SNP Total Lab Total Symptoms


Pro Flora Max Plus 4.62 #N/A #N/A
FUT2 (rs492602) 2 GG 22.1% Variants in the FUT2 enzyme may lead to disruptions in the good intestinal bacteria. This enzyme
variant may cause a predisposition to Crohn's disease. Monitor gut health with this variant. FUT2
FUT2 (rs601338) 2 AA 21.5%
may also be related to lowered immune function.
FUT2 (rs602662) 2 AA 24.4%
FUT2 (rs16982241) GG 73.4%
FUT2 (rs281377) CC 29.9%
FUT2 (rs1800022) CC 98.1%
FUT2 (rs1047781) AA 98.6%
FUT2 (rs1800027) CC 87.0%
FUT2 (rs1800028) CC 99.9%
FUT2 (rs485186) 2 GG 24.5%
FUT2 (rs603985) 2 CC 24.6%
FUT2 (rs504963) 2 AA 24.1%

FUT2 54%

ABP1 (Histamine Breakdown) Product Name SNP Total Lab Total Symptoms
Histamine Scavenger 4.17 #N/A #N/A
ABP1 (rs10156191) 1 CT 38.1% This is the gene that makes the DAO enzyme that helps degrade histamine. SNPs with this gene,
combined with HNMT genes, and low methyl groups, may result in high histamine and high
ABP1 (rs1049742) CC 85.8%
zonulin.
ABP1 (rs1049793) 1 CG 42.0%
ABP1 (rs35070995) AA 99.8% Eating less histamine containing and histamine reducing foods may be needed.

With only two variants in the APB1 gene, it would seem likely the production of the DAO enzyme
ABP1 80% is good. However, at this time, we do not know which SNP is most relevant, and homozygosity of
the most important one could be clinically relevant.

Page 3 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
HNMT (Histamine Transferase) Product Name SNP Total Lab Total Symptoms
Histamine Scavenger 4.17 #N/A #N/A
HNMT (rs1020678) 1 TC 47.5% HNMT produces the enzyme that uses a methyl group to degrade histamine in the body. The
ABP1 gene also clears histamine with the DAO enzyme.
HNMT (rs1050891) 1 AG 33.8%
HNMT (rs1349992) 1 GA 47.3% If there are many SNPs, and low methyl groups, there is the potential for high histamine. This can
HNMT (rs1378321) 1 AG 33.9% result in high levels of zonulin, which can cause gut inflammation and the potential for leaky gut.
Over time, this may contribute to autoimmune disorders.
HNMT (rs1455157) 1 TC 34.4%
HNMT (rs1455158) 1 CT 34.4% Avoiding high histamine foods (alcoholic beverages and fermented foods) may be helpful as well
as taking high amounts of Histamine Scavenger. Sometimes dosages need to be 9 to 12 per day in
HNMT (rs1455162) 1 AG 34.4% the beginning, and then can reduce over time.
HNMT (rs1455164) 1 GA 34.6%
Histamine Scavenger may need Pro SAMe if there are low methyl groups.
HNMT (rs1455167) 1 TG 34.4%
HNMT (rs1580111) 1 CT 47.4% If there is a lot of histamine and zonulin, and if they also have an HLA gene, gluten sensitivity may
be a problem as well.
HNMT (rs16840064) GG 98.8%
HNMT (rs2198652) 1 CT 34.4%
HNMT (rs2737385) 1 TG 33.9%
HNMT (rs3100701) 1 GA 48.1%
HNMT (rs3100725) 1 GA 34.5%
HNMT (rs3791235) 1 CA 33.3%
HNMT (rs3828168) 1 CT 33.7%
HNMT (rs4245861) 1 CT 33.8%
HNMT (rs4646322) CC 69.0%
HNMT (rs4646333) 1 GA 33.8%
HNMT (rs4954941) 1 GA 33.9%
HNMT (rs60444277) GG 99.9%
HNMT (rs993891) 1 TG 34.5%

Histamine Clearing (HNMT) 57%

GRHPR
GRHPR (rs2768659) 2 GG 43.9% GRHPR provides instructions for making the enzymes glyoxylate, and hydroxypyruvate reductase.
This enzyme plays a role in preventing the buildup glyoxylate by converting it into glycolate.
GRHPR (rs309455) CC 59.0%
Glycolate can be easily eliminated from the body. This enzyme can also convert hydroxypyruvate
GRHPR (rs309453) TT 34.4% to D-glycerate. D-glycerate is eventually converted into glucose, by other enzymes, and can be
used for energy.

Variations in this gene can cause a reduction in the conversion of glyoxylate to glycolate.
Glyoxylate builds up and is converted to a compound called oxalate. The oxalate is then filtered
through the kidneys and is either excreted in the urine as a waste product or combines with
calcium to form calcium oxalate. Calcium oxalate is a hard compound that is the main component
of kidney and bladder stones.

A diet of low oxalate is suggested if there are variants present.

We are not aware of these SNPs being clinically relevant for Oxylate issues, but put them here as
a consideration for someone has health challenges that cannot be found. If there are SNPs here,
verification though OAT testing or other methods would be in order, rather than just relying on
these SNPs.

GRHPR 67%

Krebs Cycle - Genes that support the production of Acetyl-CoA and ATP
For the body to function properly, fats, carbs and proteins need to be carried into the cell and to be converted into Acetyl-CoA, the first step of the Citric Acid Cycle,
for the production of ATP. These genes play a role in this process. If inadequate Acetyl-CoA is made, the individual may present with fatigue. Since ATP is needed for
many functions, other parts of the body may suffer as a result with low ATP.

If there are a lot of SNPs here, this very well may be one of the first things that need to be addressed with the gut. If gut issues exist as well, you can work on both the
gut and cellular energy at the same time.
Page 4 of 32 on 10/10/2016 1:12:34 PM
Patient: First/Last Name

If there are a lot of SNPs here, this very well may be one of the first things that need to be addressed with the gut. If gut issues exist as well, you can work on both the
gut and cellular energy at the same time.

Gene Name Variants Metrics


Carnitine Transportation Product Name SNP Total Lab Total Symptoms
Fatty Acid Assist 1.57 #N/A #N/A
Mitochondrial & Energy Assist 8.17 #N/A #N/A
CBS / BHMT Assist 3.19 #N/A #N/A
SLC22A5 (rs13180043) CC 91.9% The SLC22A5 gene provides instructions for making a protein called OCTN2. This protein is
positioned within the cell membrane, where it transports carnitine into the cell.
SLC22A5 (rs2631367) 1 CG 50.1%
SLC22A5 (rs13180186) GG 83.6% Carnitine is an amino acid derivative that is synthesized in the human body. Carnitine is primarily
SLC22A5 (rs2631361) CC 37.9% synthesized in the liver and is stored in the tissues that use fatty acids as their primary fuel (Such
as skeletal and cardiac muscle). Carnitine is required for mitochondrial β-oxidation of long-
SLC22A5 (rs2631362) AA 48.4% chain fatty acids for energy production.
SLC22A5 (rs2631363) AA 38.1%
Variations in the SLC22A5 gene can result in a dysfunctional OCTN2 protein. This can cause a
SLC22A5 (rs17622208) 1 GA 48.1% shortage of carnitine within cells. Without carnitine, fatty acids cannot enter mitochondria. This
SLC22A5 (rs17689550) CC 79.2% may cause muscle weakness and hypoglycemia. Fatty acids may also build up in cells and damage
the heart, liver, and muscles.
SLC22A5 (rs2073642) CC 84.9%
SLC22A5 (rs2073643) 1 TC 49.1% Under certain conditions, the demand for Carnitine may exceed an individual's capacity to
synthesize it, making it a conditionally essential.
SLC22A5 (rs2074610) TT 99.7%
SLC22A5 (rs2631359) CC 48.5% High levels of Adipate, Suberate or Ethylmalonate in urine organic acid testing may also confirm
lack of carnitine.
SLC22A5 (rs274549) 2 CC 70.5%
SLC22A5 (rs274550) 2 TT 69.1% Consequently, if there are too many variants, supplementation with Acetyl-L Carnitine and other
nutrients to support fat transportation/utilization may be needed to consumed with meals.
SLC22A5 (rs274551) 2 CC 70.5%
SLC22A5 (rs274557) TT 37.1%
SLC22A5 (rs274558) AA 36.9%
SLC22A5 (rs274567) CC 37.9%
SLC22A5 (rs274570) CC 48.5%
SLC22A5 (rs274571) AA 48.5%
SLC22A5 (rs4646301) GG 85.0%
SLC22A5 (rs635619) GG 48.5%
SLC22A5 (rs671473) CC 48.4%
SLC22A5 (rs1045020) CC 79.0%
SLC22A5 (rs2631366) CC 99.8%
SLC22A5 (rs72552726) GG 99.7%
SLC22A5 (rs274548) 2 CC 66.0%

Carnitine Transportation 84%

Page 5 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
PANK Product Name SNP Total Lab Total Symptoms
Fatty Acid Assist 1.57 #N/A #N/A
A-L-O Formula 0 #N/A #N/A
PANK1 (rs12412483) GG 94.6% This gene encodes members of the pantothenate kinase family. Pantothenate kinase catalyzes
the ATP-dependent phosphorylation of pantothenate (vitamin B5) to give 4′-
PANK1 (rs2038921) 2 GG 31.8%
phosphopantothenate. This reaction is the first and rate limiting step in the synthesis of
PANK1 (rs10509577) AA 88.0% coenzyme A (CoA).
PANK1 (rs10160034) CC 79.5%
Coenzyme A (CoA) is a pantothenic acid derived metabolite that is essential for many crucial
PANK1 (rs10881606) TT 44.2% cellular processes including energy, lipid and amino acid metabolism. About 4% of all known
PANK1 (rs6586201) 1 CT 39.7% enzymes utilize CoA as a cofactor and CoA thioesters are essential for over 100 different reactions
of the intermediary metabolism, such as the Krebs Cycle. In humans, CoA synthesis requires
PANK1 (rs17482070) AA 82.4% cysteine, pantothenate, and ATP.
PANK1 (rs7921294) GG 16.0%
PANK1 encodes a member of the pantothenate kinase family.
PANK1 (rs7091402) TT 16.0%
PANK1 (rs997456) 1 GA 34.2% PANK2 is the only member of the pantothenate kinase family to be expressed in mitochondria.

PANK2 (rs6107373) 1 GA 5.6% PANK3 is expressed most abundantly in the liver


PANK2 (rs6084513) 2 AA 27.6%
PANK4 is most abundant in muscle but is expressed in all tissues.
PANK2 (rs6084506) 1 CT 46.9%
PANK2 (rs4815628) 2 CC 28.8%
PANK2 (rs4815621) 2 GG 50.8%
PANK3 (rs11952767) CC 99.0%
PANK4 (rs7535528) GG 41.2%
PANK4 (rs2246732) 1 AG 36.7%
PANK4 (rs2236395) 1 AG 36.7%
PANK4 (rs1980789) AA 91.6%

PANK1 71%

PANK2 43%

PANK3 100%

PANK4 75%

Total PANK 61%

Page 6 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
ACAT Product Name SNP Total Lab Total Symptoms
Fatty Acid Assist 1.57 #N/A #N/A
Fatty Acid Liquescense 1.57 #N/A #N/A
Mitochondrial & Energy Assist 8.17 #N/A #N/A
Gastrogest 5.71 #N/A #N/A
ACAT Assist 5.71 #N/A #N/A
Adenosyl-Cobalamin B12 Assist 5.71 #N/A #N/A
ACAT1-02 (rs3741049) GG 78.5% The ACAT Gene may be one of the most important, as it supports the conversion of fats and
proteins into Acetyl-CoA. This may be one of the first variants to support, as it slows the
ACAT-1 (rs10890819) 2 TT 10.2%
production of ATP from the Citric Acid Cycle. Checking the Fatty Acid Metabolism Markers in a
ACAT-2 (rs3798211) 2 CC 31.1% Urine Organic Acid test may verify how serious of a problem ACAT is creating.
ACAT-1 (rs2280332) AA 61.8%
ACAT-2 (rs9347340) 2 CC 55.4%
ACAT-2 (rs25683) 2 GG 31.4%
ACAT-2 (rs3465) GG 38.9%
There are eight variants in the ACAT enzyme. If the variant is the first one listed, the ACAT1-02,
ACAT (All Genes) 43% then support for ACAT is needed. This is the most significant SNP for ACAT. If there are no variants
in ACAT1-02 but eight other variants, support may be needed.

If you want to find out if these SNPs are impacting the utilization of fats and proteins, run the
Genova Urine Organic Acids, and see if the markers for fat usage and protein usage indicate a
problem.

ACAT - (Single SNP Most There are no variants in the most clinically significantly ACAT gene. However, many SNPs in the
100% others may have an impact. Urine Organic Acid testing may indicate a problem if there are
Relevent)
numerous other SNPs.
SLC16A1 Product Name SNP Total Lab Total Symptoms
ACAT Assist 5.71 #N/A #N/A
Carb Assist 0 #N/A #N/A
SLC16A1 (rs7169) 2 AA 33.5% The protein encoded by this gene modulates the cellular levels of lactate and pyruvate.
SLC16A1 (rs76612089) CC 96.3%
Pyruvate is the end product of glycolysis, which is then converted into acetyl coA that enters the
SLC16A1 (rs11585690) AA 95.1% Krebs cycle when there is sufficient oxygen present. When the oxygen is insufficient, pyruvate is
SLC16A1 (rs71659381) GG 86.3% broken down anaerobically, creating lactate.

SLC16A1 (rs3849174) 1 TG 34.4% Lactate is produced by almost all tissues in the body, with the highest level of production found in
SLC16A1 (rs12028967) 1 TG 44.0% muscle tissues. Under normal conditions, lactate is rapidly cleared by the liver.

SLC16A1 (rs4301628) 1 CT 43.8% Variants in this gene may lead to metabolic myopathy and exercise-induced hyperinsulinemic
hypoglycemia.

SLC16A1 64%

ACSL1 Product Name SNP Total Lab Total Symptoms


Fatty Acid Assist 1.57 #N/A #N/A
A-L-O Formula 0 #N/A #N/A
ACSL1 (rs9997745) 1 GA 24.5% The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase
family. Although differing in substrate specificity, subcellular localization, and tissue distribution,
ACSL1 (rs4862417) AA 55.3%
all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and
ACSL1 (rs13120078) 1 GA 44.6% thereby play a key role in lipid biosynthesis and fatty acid degradation.
ACSL1 (rs12503643) 2 TT 17.1%
ACSL1 (rs41278587) GG 94.7%
ACSL1 (rs6552828) 2 GG 35.0%
ACSL1 (rs72695682) CC 90.2%
ACSL1 (rs72695685) TT 86.4%
At this time, no particular SNPs have been specifically identified as having the greatest impact on
ACSL1 63% lipids, so these genes are added for general information and may mean that more weight should
be given to ACAT or carnitine issues when these genes have high amounts of variants.

If there are many variants, be aware of fat utilization impairments.

Page 7 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
TALDO1 Product Name SNP Total Lab Total Symptoms
A-L-O Formula 0 #N/A #N/A
TALDO1 C749776T (rs11246300) CC 62.7% TALDO1 is a key enzyme in the synthesis of NADPH for lipid biosynthesis. This enzyme also helps
to maintain glutathione in a reduced state to prevent cellular damage from oxygen radicals.

In our Phase II Lyme study, we found that variants in TALDO1 were much higher in patients with
Lyme Disease

TALDO1 100%

Page 8 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
NDUFS Product Name SNP Total Lab Total Symptoms
Mitochondrial & Energy Assist 8.17 #N/A #N/A
Pro NADH 1.5 #N/A #N/A
NDUFS1 (rs1044120) CC 37.5% NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, and NDUFS8 encode a protein
that is part of a subunit for Complex I.
NDUFS1 (rs4147727) AA 32.8%
NDUFS1 (rs4147720) AA 33.3% Complex I is the first enzyme of the mitochondrial electron transport chain. There are over 40
NDUFS1 (rs186057450) GG 99.8% subunits found in Complex I.

NDUFS1 (rs1801318) TT 46.9% The electron transport chain consists of a series of redox reactions in which electrons are
NDUFS1 (rs11548670) AA 93.2% transferred from a donor molecule to an acceptor molecule.

NDUFS1 (rs4147713) AA 28.3% Each electron donor passes electrons to a more electronegative acceptor. The electronegative
NDUFS1 (rs4147712) TT 31.5% acceptor then donates these electrons to another acceptor until the electrons are passed to
oxygen, the most electronegative and terminal electron acceptor in the electron transport chain.
NDUFS1 (rs4147709) CC 31.3% Passage of electrons between donor and acceptor releases energy, which is used to generate a
NDUFS2 (rs10908826) 1 CT 25.1% proton gradient across the mitochondrial membrane by “pumping” protons into
the intermembrane space. The resulting proton gradient is used to make ATP via ATP synthase.
NDUFS2 (rs4656994) 1 GA 35.2%
NDUFS2 (rs10797094) 2 AA 35.7% NADH → Complex I → Q → Complex III → cytochrome c → Complex IV →
O2
NDUFS2 (rs1136224) AA 72.4%
NDUFS3 (rs4147730) GG 74.5% Complexes I, III and IV are the proton pumps, while Q and cytochrome c are mobile electron
carriers.
NDUFS4 (rs1532163) 2 GG 59.0%
NDUFS4 (rs1994648) AA 64.5% Variations in these genes may cause Complex I to be deficient.
NDUFS4 (rs2637002) 1 CA 26.0%
NDUFS4 (rs3103600) 1 GA 38.4%
NDUFS4 (rs4147735) 1 TG 27.6%
NDUFS4 (rs432020) 1 CT 26.1%
NDUFS4 (rs381575) 1 AC 45.5%
NDUFS4 (rs11743262) 1 TG 26.9%
NDUFS4 (rs2124948) 1 CT 49.3%
NDUFS4 (rs2636993) 1 GA 40.6%
NDUFS4 (rs365578) 1 GT 40.7%
NDUFS4 (rs42565) 1 AG 26.2%
NDUFS4 (rs31304) 2 CC 93.1%
NDUFS4 (rs31303) 2 GG 59.0%
NDUFS4 (rs31302) 2 TT 41.1%
NDUFS4 (rs12517465) 1 GA 49.1%
NDUFS4 (rs10513019) 1 TC 27.7%
NDUFS4 (rs1388111) TT 47.5%
NDUFS4 (rs372215) 1 GA 26.1%
NDUFS4 (rs4147736) 1 GA 49.3%
NDUFS4 (rs2607508) 1 TC 26.4%
NDUFS4 (rs256116) 2 TT 58.9%
NDUFS4 (rs4147737) AA 78.9%
NDUFS4 (rs12515547) GG 64.4%
NDUFS4 (rs12522533) GG 64.4%
NDUFS4 (rs4147739) 1 GA 27.6%
NDUFS4 (rs31308) 1 AG 26.1%
NDUFS4 (rs256094) GG 51.9%
NDUFS4 (rs4147740) TT 68.0%
NDUFS4 (rs4147742) 1 GA 27.5%
NDUFS4 (rs445347) 1 AG 26.1%
NDUFS4 (rs2607506) TT 71.3%

Page 9 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
NDUFS4 (rs2290697) 1 CT 49.2%
NDUFS7 50%
NDUFS4 (rs567) 1 GA 48.3%
NDUFS5 (rs3768324) 1 CT 41.1%
NDUFS1 100%
NDUFS5 (rs6663155) 2 AA 68.6%
NDUFS6 (rs1873926) 2 TT 74.8%
NDUFS2 50%
NDUFS6 (rs3776150) CC 59.0%
NDUFS6 (rs3776148) 1 CT 45.6%
NDUFS3 100%
NDUFS6 (rs1018120) 1 CT 45.5%
NDUFS6 (rs17535721) 1 GA 35.7%
NDUFS4 54%
NDUFS6 (rs3822362) GG 82.4%
NDUFS6 (rs3756346) 2 TT 74.8%
NDUFS5 25%
NDUFS6 (rs4147774) CC 82.4%
NDUFS7 (rs1142530) 1 CT 46.0%
NDUFS6 56%
NDUFS7 (rs7258846) GG 25.6%
NDUFS7 (rs809359) 2 AA 86.3%
NDUFS8 63%
NDUFS7 (rs2332496) 1 GA 48.7%
NDUFS8 (rs1051806) 1 CT 29.9%
NDUFS Total 61%
NDUFS8 (rs999571) 1 GA 21.8%
NDUFS8 (rs2075626) 1 TC 36.0%
OGDH Product Name SNP Total Lab Total Symptoms
Pro Alpha Ketoglutarate Plus 0 #N/A #N/A
OGDH (rs142839706) GG 96.7% OGDH or Oxoglutarate (Alpha-Ketoglutarate) Dehydrogenase (Lipoamide) encodes one subunit of
the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of
OGDH (rs17133537) TT 30.9%
alpha-ketoglutarate to succinyl-CoA and CO2.
OGDH (rs740094) GG 31.4%
OGDH (rs2268308) CC 92.2% Studies have shown that variants in OGDH lead to hypotonia, metabolic acidosis, and
hyperlactatemia
OGDH (rs757702) GG 92.2%
OGDH (rs10951768) 1 GT 14.9%
OGDH (rs799434) 2 CC 81.2%
OGDH (rs12155014) 1 TC 14.8%
OGDH (rs10247064) CC 84.6%
OGDH (rs710887) 2 CC 48.0%
OGDH (rs3735474) 1 AG 15.0%
OGDH (rs3801401) CC 94.2%
OGDH (rs7805156) CC 92.9%
OGDH (Alpha-Ketoglutarate to
73%
Succinyl-CoA and CO2)

Detoxification Capacity - SOD, Glutathione (Phase 2 Liver Detox) and CYP (Phase 1
Liver Detox)
SOD (Superoxide Dismutase), Glutathione, CYP (cytochrome P-450) and PON1 represent the body's ability to neutralize free radicals and to detox properly. The more
variants here, the less ability to deal with free radicals, which may increase inflammation, aid in the eventual breaking down of the body, and lower the ability to clear
toxins. After supporting the gut and ATP production, supporting the neutralizing of free radicals and detoxifying may be the next most important part of the body to
support.

Superoxide Dismutase turns the free radical Superoxide into H2O2, which is then turned into water and oxygen by glutathione and catalase. If SOD does not
neutralize the free radical, it combines with nitric oxide and creates the very strong oxidizing agent peroxynitrite.

If there is low glutathione, and folate is given, the folate can stimulate Phase 1 detox but overwhelm Phase 2. This can cause inflammation. This is why many people
have negative reactions to folate, even when they have MTHFR and folate deficiency. Always make sure you have adequately supported Phase 2 Liver Detox before
proceeding with folate.

Variants in PON1 will reduce the ability to clear herbicides and pesticides, further straining glutathione levels.

Page 10 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
Variants in PON1 will reduce the ability to clear herbicides and pesticides, further straining glutathione levels.

Gene Name Variants Metrics


Detox Ability - SOD Product Name SNP Total Lab Total Symptoms
Pro SOD/Catalase Support 7.83 #N/A #N/A
Nutrition & Anti-Oxidant Accelerator 8.33 #N/A #N/A
SOD2 (rs2758331) 2 AA 22.9% The free radical Super Oxide, may be created 5% of the time when the cells create ATP, and is
made in large quantities with NOS uncoupling, and thus making the very dangerous oxidizing
SOD2 A16V (rs4880) 2 GG 24.4%
agent Peroxynitrite. Since inflammation may be one of the major causes of premature aging and
SOD3 (rs2855262) 1 TC 45.7% disease, controlling the superoxide free radical is critical. Superoxide Dismutase turns the
superoxide free radical into H2O2, so glutathione and catalase can turn them into water and
oxygen. The SOD2 genes make superoxide dismutase (SOD) inside the cells, while SOD3 make the
SOD outside the cells. Nutrition & Anti-Oxidant Accelerator supports the production of SOD,
while Pro SOD/Catalase contains the actual enzymes in a capsule that only opens in the intestinal
tract.
With 5 SOD variants, Nutrition & Anti-Oxidant Accelerator will likely not be enough superoxide
SOD Production 17% dismutase protection. Consequently, use 3 Nutrition & Anti-Oxidant Accelerator capsules and at
least 2-3 Pro SOD/Catalase. This can be increased to 4 if there are other factors that increase the
peroxynitrite. Pro SOD will be a permanent supplement for this individual. Nrf2 Accelerator
would also likely be needed.
Detox Ability - Glutathione Product Name SNP Total Lab Total Symptoms
Glutathione Accelerator 4.63 #N/A #N/A
Peroxynitrite Scavenger 4.5 #N/A #N/A
S Acetyl Glutathione 4.63 #N/A #N/A
Peroxynitrite Scavenger P.M. 4.5 #N/A #N/A
GSH Assist 4.63 #N/A #N/A
Nrf2 Accelerator 4.5 #N/A #N/A
SHMT Assist 0 #N/A #N/A
GSTM1 (rs1056806) CC 87.9% Glutathione is a critical antioxidant that is very important in Phase II Liver Detox. Studies have
shown those with the highest glutathione live the longest. If there is insufficient glutathione, you
GSTP1 A114V (rs1138272) CC 84.3%
will age prematurely, and be prone to lowered ability to detox. Individuals with low glutathione
GSTP1 I105V (rs1695) 1 AG 44.4% often report an inability to tolerate strong smells and are very prone to inflammatory conditions,
SHMT2 (rs34095989) GG 38.1% especially when this is combined with other variants that cause inflammation.

CTH (rs1021737) 1 GT 40.8% Glutathione Accelerator has NAC and enzyme support, while GSH Assist has glycine when this is
needed, or NAC is contraindicated. Nrf2 Accelerator supports the production of Glutathione.
Always make sure you have supported Glutathione before giving folate.
With 1 glutathione enzyme variant, there may be a slight need for Glutathione Accelerator,
Glutathione Enzymes 83% unless there is a lot of peroxynitrite production, or the SHMT or CTH variants are present.

There are no variants in the SHMT gene, so there may be adequate glycine, unless other variants
Glycine / SHMT 100% use it up in excess.

With one variant in the CTH gene, it is possible that Cysteine may be lower than necessary to
Cysteine Production 50% create adequate glutathione. Performing Urine Organic Testing can help determine if there is a
glutathione need. Variants in glutathione enzymes and SHMT can further aggravate glutathione
levels.

Page 11 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
Catalase Product Name SNP Total Lab Total Symptoms
Pro SOD/Catalase Support 7.83 #N/A #N/A
CAT (rs1049982) 2 CC 43.1% The CAT gene provides instructions for making an enzyme called catalase. Catalase is a key
antioxidant enzyme in the body's defense against oxidative stress. Oxidative stress is when there
CAT (rs11032703) CC 84.0%
is an imbalance between the production of free radicals and the body's defense against the free
CAT (rs2300181) 1 CT 38.1% radicals harmful effects.
CAT (rs480575) AA 49.1%
Studies have hypothesized that oxidative stress plays a role in the development of many chronic
CAT (rs494024) 2 CC 39.0% or late-onset conditions such as diabetes, asthma, Alzheimer's disease, and rheumatoid arthritis.
CAT (rs484214) AA 49.5%
Catalase will convert the reactive oxygen species hydrogen peroxide to water and oxygen.
CAT (rs17881734) GG 97.3%
CAT (rs2284369) AA 58.5% 2 H2O2 → 2 H2O + O

CAT (rs1408036) AA 80.7% This alleviates the toxic effects of hydrogen peroxide.
CAT (rs769218) GG 58.4%
Variants in this gene have been associated with decreases in catalase activity.
CAT (rs17881288) AA 97.3%
CAT (rs7933285) 1 CT 38.0%
CAT (rs2073058) 1 AG 38.1%
CAT (rs12273124) 1 AG 10.0%
CAT (rs769217) CC 58.5%
CAT (rs17881586) GG 96.6%
CAT (rs511895) 2 CC 38.9%
CAT (rs10488736) 2 TT 9.4%

CAT 67%

Detox Ability - CYP Product Name SNP Total Lab Total Symptoms
Nrf2 Accelerator 4.5 #N/A #N/A
Detox Liquescense 5 #N/A #N/A
CYP1A1 (rs4986883) TT 99.8% Inside the liver cells there are sophisticated mechanisms that break down toxic substances. Every
drug, artificial chemical, pesticide, and hormone is broken down by enzyme pathways inside the
CYP1A1*2C A4889G (rs1048943) TT 91.1%
liver cells.
CYP1A1*4 C2453A (rs1799814) GG 91.4%
CYP1A2 C164A (rs762551) 2 AA 50.0% Many of the toxic chemicals that enter the body are fat-soluble, which means they dissolve only
in fatty or oily solutions and not in water. This makes them difficult for the body to excrete. The
CYP1B1 L432V (rs1056836) CC 19.3% body's primary defense against metabolic poisoning is carried out by the liver. The liver has two
CYP1B1 R48G (rs10012) GG 15.9% mechanisms designed to convert fat-soluble chemicals into water soluble chemicals so that they
may then be easily excreted from the body via watery fluids such as bile and urine.
CYP1B1 N453S (rs1800440) TT 67.9%
CYP2A6*2 A1799T (rs1801272) AA 95.2% There are two detoxification pathways inside the liver cells, which are called the Phase 1 and
Phase 2 detoxification pathways. Phase one detoxification consists of oxidation reduction and
CYP2C19 (rs12248560) CC 62.5% hydrolysis. Phase one detoxification is catalyzed by enzymes referred to as the cytochrome P450
CYP2C9*3 A1075C (rs1057910) AA 87.9% enzyme. These enzymes reside on the membrane system of the liver cells (called Hepatocytes).
Human liver cells possess the genetic code for many isoenzymes of P-450 whose synthesis can be
CYP2C9*2 A C430T (rs1799853) CC 77.0% induced upon exposure to specific chemicals. This provides a mechanism of protection from a
CYP2D6 T100C (rs1065852) 1 GA 34.9% wide variety of toxic chemicals.
CYP2D6 (rs1135840) GG 32.7% This pathway converts a toxic chemical into a more harmful chemical. This is achieved by various
CYP2D6 T2850C (rs16947) 1 GA 53.1% chemical reactions (such as oxidation, reduction and hydrolysis), and during this process free
radicals are produced which, if excessive, can damage the liver cells. Antioxidants (such as
CYP2E1*1B A10023G (rs55897648) GG 99.6% vitamin C and E and natural carotenoids) reduce the damage caused by these free radicals. If
CYP2E1*1B G9896C (rs2070676) 2 CC 75.5% antioxidants are lacking and toxin exposure is high, toxic chemicals become far more dangerous.
CYP2E1*4 A4768G (rs6413419) GG 94.2%
The more CYP variants, the more difficulty there may be in detoxification of toxins and drugs.
CYP3A4*1B (rs2740574) 2 TT 91.2%
We may develop a supplement to support CYP, but in the meantime if there are many variants,
CYP3A4*3 M445T (rs4986910) AA 98.5%
support Nrf2 and glutathione.

CYP - Phase 1 Liver Detox 81%

Page 12 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
ABP1
ABP1 (rs10156191) 1 CT 38.1% Non-steroidal anti-inflammatory drugs (NSAIDs) are the drugs most frequently involved in
hypersensitivity drug reactions. Histamine is released in the allergic response to NSAIDs and is
responsible for some of the clinical symptoms.

Studies have shown that individuals with variants in SNP rs10156191 have a hypersensitivity to
NSAIDS.
With 1 variant this individual may be hypersensitive to NSAIDS.
NSAID Sensitivity 50%

PON1 - Peroxynase Product Name SNP Total Lab Total Symptoms


PON1 Assist 0 #N/A #N/A
Addex 0 #N/A #N/A
PON1 Q192R (rs662) TT 48.1% Pesticide use has been increasing over the years, and has become quite controversial.
PON1 (rs854555) 2 CC 40.4%
Our body needs the ability to detox from them and the PON1 (Peroxynase) gene, along with
PON1 (rs3917550) GG 76.4% Glutathione, plays an important role in helping the body clear them.
PON1 (rs3917548) AA 88.4%
PON1 (Paraoxonase) plays a large role in removing pesticides. It is also involved with supporting
PON1 (rs3917542) CC 60.4% HDL function, crucial for healthy circulation.
PON1 (rs2074354) GG 79.6%
The most important gene so far is the first one listed, the PON1 Q192R, however, the rest may
PON1 (rs854561) 2 TT 12.9% play an important role as well.
PON1 (rs3917498) GG 42.8%
Consider using Addex Homeopathic Spray and PON1 Assist for those with this genetic variant.
PON1 (rs2272365) AA 71.9%
PON1 (rs2049649) AA 45.3%
PON1 (rs2299260) TT 67.0%
PON1 (rs2299262) CC 38.4%
PON1 (rs854569) 2 GG 58.7%
PON1 (rs2237584) CC 86.2%
PON1 (rs3917478) TT 79.3%
PON1 (rs854566) 2 GG 66.5%
Although there are no PON1 rs662 variants, if there are many others, support may be needed. It
PON1 (Single Most Relevant) 100% is unknown how the other PON1 variants may impact detoxification.

PON1 ( All Genes) 81%

Page 13 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
NAT Genes Product Name SNP Total Lab Total Symptoms
Nrf2 Accelerator 4.5 #N/A #N/A
NAT1 (rs4986782) GG 96.2% The NAT1 and NAT2 genes encode an enzyme that catalyzes the transfer of an acetyl group from
acetyl-CoA to various arylamine and hydrazine substrates. This enzyme helps in the
NAT1 (rs7017402) 1 AG 21.6%
metabolization of drugs.
NAT1 (rs11203943) GG 81.3%
NAT1 (rs4921581) AA 11.6% Variations in these genes are associated with higher incidences of drug toxicity

NAT1 (rs13253389) AA 12.8%


NAT1 (rs17693103) GG 71.5%
NAT1 (rs9325827) TT 71.4%
NAT1 (rs6586714) 2 GG 75.6%
NAT1 (rs17126350) AA 86.5%
NAT1 (rs8190837) AA 83.0%
NAT1 (rs8190844) CC 97.7%
NAT1 (rs8190845) GG 72.5%
NAT1 (rs8190847) GG 94.3%
NAT1 (rs4987076) GG 94.3%
NAT1 (rs4986990) GG 94.4%
NAT1 (rs4986783) TT 94.3%
NAT1 (rs56172717) AA 99.5%
NAT1 (rs15561) 2 CC 51.8%
NAT1 (rs4986993) 2 GG 51.9%
NAT2 (rs11780272) 1 TC 47.5%
NAT2 (rs2087852) AA 50.8%
NAT2 (rs1390358) 1 TC 46.8%
NAT2 (rs2410556) TT 76.0%
NAT2 (rs1961456) 1 AG 41.5%
NAT2 (rs973874) 2 CC 98.7%
NAT2 (rs7832071) 1 CT 47.6%
NAT2 (rs56011192) CC 99.2%
NAT2 (rs2552) TT 91.3%
NAT2 C282T (rs1041983) CC 45.3%
NAT2 C481T (rs1799929) 1 CT 47.5%
NAT2 G286E (rs1799931) GG 94.0%
NAT2 I114T (rs1801280) 1 TC 64.3%
NAT2 K268R (rs1208) 1 GA 47.6%
NAT2 R197Q (rs1799930) GG 50.1%
NAT2 R64Q (rs1801279) GG 99.6%

NAT1 82%

NAT2 72%

Folate Creation & Pathways


For the methylation cycle to work, there needs to be adequate amounts of folate. Variants along the pathway will reduce the folate in the body. In addition to many
other roles in the body, folate is needed to work with B12 to convert homocysteine into methionine, so more SAMe can be made.

Before supporting folate, always make sure there is adequate B12, that the transsulfuration pathway is not going too fast and thus creating glutamate, and
glutathione levels are adequate. If there is not enough B12, you can get folate trapping. If CBS is variated, you can create anxiety by making more glutamate, and if
phase II (glutathione) is not adequate, the folate can stimulate Phase I and cause inflammation. It is usually best to add folate LAST, after inflammation, CBS, and B12
is properly addressed.

Page
FOLR 14 of->32
-> DHFR DHFon 10/10/2016
(dihydrofolic 1:12:34
acid) -> PM(tetrahydrofolic acid) -> MTHFD1 -> 10-FORMYL THF - > MTHFD1 -> 5-10 Methenyl THF (a form of
DHFR -> THF
tetrahydrofolate) MTHFD1 -> 5-10 Methenyl THF (a form of tetrahydrofolate) -> MTHFD1 -> 5-10 Methenylene THF (the substrate used by the enzyme
methylenetetrahydrofolate reductase to generate 5-methyltetrahydrofolate) - MTHFR -> 5 -MTHF
Patient: First/Last Name
is properly addressed.

FOLR -> DHFR -> DHF (dihydrofolic acid) -> DHFR -> THF (tetrahydrofolic acid) -> MTHFD1 -> 10-FORMYL THF - > MTHFD1 -> 5-10 Methenyl THF (a form of
tetrahydrofolate) MTHFD1 -> 5-10 Methenyl THF (a form of tetrahydrofolate) -> MTHFD1 -> 5-10 Methenylene THF (the substrate used by the enzyme
methylenetetrahydrofolate reductase to generate 5-methyltetrahydrofolate) - MTHFR -> 5 -MTHF

Gene Name Variants Metrics


Folate Receptor Sites Product Name SNP Total Lab Total Symptoms
Detox Accelerator 1.67 #N/A #N/A
Methylation Assist Liquescense 2.11 #N/A #N/A
FOLR1 (adult) (rs2071010) GG 88.5% Folate plays many critical roles in the body, and the first step of folates is the folate receptor sites.
Variants in the folate receptor sites will likely reduce the amount of folate absorbed for usage,
FOLR2 (fetal) (rs651933) 1 GA 48.9%
and increase the need for supplementation. Methylation Assist Liquescence may support the
FOLR3 (gamma) (rs7925545) AA 90.7% absorption of Folate.

With 1 variant, folate supplementation may be appropriate.


Folate Assimilation 83%

DHFR Product Name SNP Total Lab Total Symptoms


BH4 Assist 3.67 #N/A #N/A
Pro NADH 1.5 #N/A #N/A
DHFR (rs1643649) TT 54.6% The DHFR gene is a protein coding gene. DHFR converts dihydrofolate into tetrahydrofolate.
DHFR has a key role in cell growth.
DHFR (rs1650697) 1 AG 37.7%
DHFR (rs865646) GG 47.4% Variants here will indicate the need for methyl folate and PRO NADH. BH4 Support and
DHFR A20965G (rs1643659) TT 54.6% Glutathione Support may also be needed.

DHFR C19483A (rs1677693) GG 54.6%


With one DHFR variant, folate production may be impaired. FOLR and MTHFR variants along with
DHFR 90% this can impact folate production. Since DHFR also supports BH2 to BH4 conversion, also check
QDPR. This would compound the BH4 recycling.
MTHFR Product Name SNP Total Lab Total Symptoms
BH4 Assist 3.67 #N/A #N/A
Pro Bioactive Folate 1.67 #N/A #N/A
MTHFR/BHMT Assist 3.63 #N/A #N/A
MTHFR/MTR/MTRR/BHMT Assist 0 #N/A #N/A
MTHFD1 C105T (rs1076991) 1 TC 48.6% It is currently theorized that the C677T impacts the methionine cycle more significantly while the
A1298 impacts the BH4 cycle. If this theory is correct, those with C677 would need more support
SHMT2 (rs34095989) GG 38.1%
in reducing Homocysteine while A1298C may need more support with creating BH4 and
MTHFS (rs6495446) CC 54.5% preventing NOS uncoupling. Nonetheless, there is usually a need for folate with these variants.
MTHFR A1298C (rs1801131) TT 47.7% However, to be sure, checking the urine organic acids can confirm, and can also be used as a
measure when adequate levels are reached when supplementing.
MTHFR C677T (rs1801133) 1 GA 45.0%
MTHFR Production (C677T & With 1 heterozygous MTHFR variant, there is a possible need for folate, methylation, and possibly
75% circulation support. Folate production may be about 70%. However, doing the Genova Urine
A1298C)
Organic Acid test will verify if there is a need for folate. In some instances, they are compensating
OK.
With 3 folate production variants, folate supplementation may be very important.
Overall Folate Production 83%

Methionine Cycle
The Methionine Cycle takes the amino acid methionine, uses the MAT gene to make SAMe. SAMe is the methyl donor that gives a methyl group where it is needed for
well over 100 functions. The GAMT gene takes SAMe to make creatine.

After donating a methyl group and making creatine, SAMe turns into SAH and then the AHCY gene turns it into homocysteine.

Variants in MTRR, MTR, BHMT, PEMT will slow the conversion of homocystine into methionine.

Page 15 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
Variants in MTRR, MTR, BHMT, PEMT will slow the conversion of homocystine into methionine.

Gene Name Variants Metrics


MTR (upregulation) Product Name SNP Total Lab Total Symptoms
Pro Hydroxocobalamin 6.25 #N/A #N/A
Methylation Assist 12.5 #N/A #N/A
MTR A2756G (rs1805087) AA 65.8% MTR combines folate, Methyl B12 and Homocysteine into Methionine. Variants in MTR are
upregulations, so it tries to go faster. MTRR attaches a methyl group to B12, and variants here will
slow the process. When both MTR and MTRR exist, dysfunction can occur.
With no MTR variants, the gene is acting normally, in trying to convert Homocysteine into
MTR 100% Methionine using methyl B12 and methylfolate. Variants in B12 or folate will impede the process.

MTRR Product Name SNP Total Lab Total Symptoms


Pro Hydroxocobalamin 6.25 #N/A #N/A
Methylation Assist 12.5 #N/A #N/A
Methylation Assist Liquescense 2.11 #N/A #N/A
MTRR A66G (b12) (rs1801394) AA 23.0% THE MTRR enzyme places a methyl group on B12 so it can be used by MTR to convert
Homocysteine into Methionine. Variants here may hamper this function. When combined with
other variants that impact the absorption and transport of B12, and if the MTR variant exists
(which is trying to make it go faster), this function may be impaired. Supplementation with
Methyl B12 is needed (Methylation Assist), unless the individual has excess methyl groups due to
other variants such as GAMT and COMT.
There are no variants in MTRR, but B12 levels could still be low if there are other B12 variants,
MTRR 100% and there may be a need for B12 if the MTR is upregulated. Genova Urine Organic Acids can
measure cellular B12.
All B12 Factors Product Name SNP Total Lab Total Symptoms
Pro Hydroxocobalamin 6.25 #N/A #N/A
Methylation Assist 12.5 #N/A #N/A
MTR A2756G (rs1805087) AA 65.8% Variants in the FUT genes may decrease probiotics, and hence decrease the absorption of B12.
The MTR variant is an upregulation, creating a higher demand for B12, while the MTRR variants
MTRR A66G (b12) (rs1801394) AA 23.0%
reduces the ability to put methyl groups on B12, thus reducing availability of methyl B12.
FUT2 (rs492602) 2 GG 22.1%
FUT2 (rs601338) 2 AA 21.5% GIF (gastric intrinsic factor) reduces the absorption of B12, while TCN1 and TCN2 limit the
transport of B12. Any combination of higher demand, less absorption and transport will impair
FUT2 (rs602662) 2 AA 24.4% the functions dependent upon B12.
GIF (TCN3) (rs558660) 1 AG 28.7%
FUT variants may create a need for immune support as well.
TCN1 (rs526934) 2 AA 52.8%
TCN2 C766G (rs1801198) 1 GC 49.9%
B12 Production / Need / With ten variants of the SNPs related to B12, supplementation is most likely needed, especially if
38% both the MTR and MTRR have variants.
Utilization
Choline Usage Product Name SNP Total Lab Total Symptoms
Glutamate Scavenger/Calming Formula 0 #N/A #N/A
CBS / BHMT Assist 3.19 #N/A #N/A
A-L-O Formula 0 #N/A #N/A
PEMT (rs4244593) TT 17.0% Variants in PEMT can impede choline production. Choline is needed by the liver and brain. PEMT
variants have been tied to fatty liver. When there are PEMT variants, use CBS/BHMT with meals.
PEMT (rs4646406) TT 25.7%
The CBS variants, especially the CBS C699T, will cause homocysteine to rush downstream too
PEMT (rs7946) 1 CT 40.9% quickly, potentially causing high glutamate and ammonia.
With just one variant in PEMT, choline supplementation may not be needed, but may be needed
Choline Production 83% if there are numerous BHMT variants.

PNPLA3 Product Name SNP Total Lab Total Symptoms


Fatty Acid Assist 1.57 #N/A #N/A
Nrf2 Accelerator 4.5 #N/A #N/A
PNPLA3 (rs738409) CC 58.3% Variants in this gene may cause a predisposition for fatty liver.

PNPLA3 100%

Page 16 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
BHMT
BHMT (rs6875201) 1 AG 18.1% Variants in the BHMT gene will slow the conversion of homocysteine into methionine. Be aware
of BHMT-08 as this may push the homocysteine down faster through the transsulfuration
BHMT R239Q (rs3733890) GG 48.8%
pathway, potentially causing excess glutamate, anxiety attacks, high levels of stress, high cortisol
BHMT-02 (rs567754) 2 TT 11.1% and adrenal fatigue.
BHMT-08 (rs651852) CC 27.3%
With three variants in BHMT support may be needed, especially if there are variants in BHMT-08.
BHMT 63% This variant will push the homocysteine down through transsulfuration, potentially causing high
ammonia, glutamate and anxiety. Also, look at this variant in conjunction with PEMT, which
makes the choline needed to be used by the BHMT enzyme to turn homocysteine into
methionine.
AHCY
AHCY-01 (rs819147) TT 54.4% AHCY variants slow the conversion of SAH into homocysteine with no predictable results. It may
lower homocysteine and consequently glutathione, but not always. The Doctor's Data serum
AHCY-19 (rs819171) TT 54.6%
methylation pathway blood test is quite helpful when these variants are present. SAMe and
amino acids with methionine might be contraindicated and N-Acetylcysteine in Glutathione
Accelerator may be helpful if cysteine blood levels are low.
With no AHCY variants, it would be likely that S-adenosylhomocysteine would convert properly to
AHCY 100% homocysteine.

GAMT (Creatine) Product Name SNP Total Lab Total Symptoms


GAMT Assist 0 #N/A #N/A
GAMT (rs17851582) GG 82.7% GAMT is the gene that converts SAMe and other cofactors into creatine, needed for muscle
strength. Variants here could lead to muscle weakness. GAMT Assist contains Creatine in a
GAMT (rs55776826) CC 74.0%
capsule that only opens in the intestinal tract for better absorption. However, use this with
GAMT (rs80338734) CC 98.8% caution in kidney disease and hypertension.
No GAMT variants present.
GAMT (Creatine) 100%

MAT Gene
MAT1 (rs11595587) GG 93.3% The MAT Gene turns methionine into SAMe. Variants here may decrease the production of SAMe
and create high methionine. This can cause some serious health problems, including neurological
MAT1 (rs12242871) 1 GA 48.5%
issues. If there are a lot of variants, consider doing the Doctor's Data Methylation Plasma test.
MAT1 (rs1819684) GG 83.1% This is especially true when there are AHCY and GAMT variants as well. If there is high
MAT1 (rs1985908) AA 46.3% methionine, supporting BHMT may be contraindicated. Glycine ( GSH Assist) and reducing foods
high in methionine may be helpful.
MAT1 (rs2993763) 1 GA 50.0%
MAT1 (rs4934028) 1 GA 49.5%
MAT1 (rs7081756) 2 TT 41.8%
MAT1 (rs756208) 1 AG 42.0%
There are six variants in the MAT gene, so as long as there is adequate methionine and ATP, SAMe
MAT 63% should be produced adequately, but there may be some issues. To find out for sure, you may
want to do the Doctors Data Blood Plasma test to measure Methionine, SAMe, SAH, and
Homocysteine. Glycine, supporting ATP production may support the production of SAMe.

Transsulfuration Pathway
The transsulfuration pathway takes homocosysteine, and pulls it down into glutathione, ammonia, cortisol, sulfites and sulfates.

If there are variants that cause less than optimal conversion of homocysteine back into methionine, and then if there are variants in the CBS genes, especially the
CBS699, then homocystine can travel too fast down the transsulfuration pathway and create glutamate, which can cause stress and anxiety. Variants in the GAD genes
can worsen the problem.

CBS variants can also create excess ammonia, that can be worse if the urea cycle is less than optimal. The excess ammonia can cause mental stress, sleeping
problems, and deplete the much needed BH4, needed for neurotransmitter production.

The excess glutamate can also raise cortisol levels, and eventually lead to adrenal fatigue.

To support this function, you need to support both pathways that convert homocysteine into methionine. One can use Calming Formula/Glutamate Scavenger,
reducing the glutamate.

Check sulfites and sulfates to see if SUOX is overwhelmed.

Page 17 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name

Gene Name Variants Metrics


Transsulfuration Product Name SNP Total Lab Total Symptoms
Glutamate Scavenger/Calming Formula 0 #N/A #N/A
CBS / BHMT Assist 3.19 #N/A #N/A
Ammonia Scavenger 5.62 #N/A #N/A
CBS A13637G (rs2851391) 1 TC 47.1% The CBS gene is similar to a brake, governor, or a dam in the river. It allows homocysteine to
move down the transsulfuration pathway at an appropriate pace. Although still being researched,
CBS C19150T (rs4920037) GG 61.5%
it is believed that some variants in CBS, and especially the CBS 699, cause the homocysteine to
CBS C699T (rs234706) GG 45.5% move down too quickly, potentially to stress SUOX, and to create excess glutamate that could
CBSA360A (rs1801181) 1 GA 45.3% create anxiety, ammonia and adrenal stress. Checking the urine sulfite and sulfate levels may give
clues to what is occurring.
CTH (rs1021737) 1 GT 40.8%
With two variants in the CBS gene, it is likely that homocysteine is coming down the
CBS 75% Transsulfuration Pathway at an appropriate pace, unless it is the CBS 699T. This variant may
substantially speed up this pathway, causing excess ammonia, sulfites, sulfates, glutamate and
stimulating the adrenals with excess cortisol. Other contributing factors could be that if the
conversion of homocysteine into methionine is impaired by variants in PEMT, BHMT, MTR, MTRR
and MTHFR, CBS may be overwhelmed.
Ammonia & Glutamate Product Name SNP Total Lab Total Symptoms
Production Estimates Glutamate Scavenger/Calming Formula 0 #N/A #N/A
CBS / BHMT Assist 3.19 #N/A #N/A
Ammonia Scavenger 5.62 #N/A #N/A
BHMT-08 (rs651852) CC 27.3% Estimated production of ammonia and glutamate in this calculation is based on variants in BHMT-
08 and CBS 699, thus potentially creating glutamate and ammonia. Measuring sulfites and
CBS C699T (rs234706) GG 45.5%
sulfates can give some clues (higher levels would go along with higher glutamate and ammonia
levels). The Genova urine organic acids test can give estimates of ammonia and blood tests can
measure ammonia as well. Excitability, anxiety and high cortisol levels would go along with high
glutamate. Checking cortisol levels may be helpful in the assessment.

Potential Ammonia & Glutamate With no variants in CBS699 and BHMT-08, there is less chance for excess glutamate and ammonia
100% from excessive Homocysteine being pulled down transsulfuration pathway. However, ammonia
Clearing Ability
can also be high from a weakened Urea Cycle and digestive issues. If they present with a lot of
ammonia symptoms, consider checking the Genova Urine Organic Acids.

Neurotransmitters - Serotonion, Dopamine, Glutamate, GABA


Neurotransmitters impact many functions beside emotions. Serotonin and GABA are generally considered relaxing, while dopamine, norepinephrine and epinephrine
are considered excitatory.

Variants in MAO may be sparing to serotonin, and may be helpful if there is low production due to low BH4. Variants in COMT can cause a myriad of issues, as the
COMT enzyme uses methyl groups to break down dopamine, and is also involved in other detox functions. Variants in COMT has the potential to cause excess methyl
groups in the body, thus negative reactions to methyl folate and methyl B12.

The GAD genes convert glutamate to GABA. If there is an overproduction of glutamate, as well as variants in GAD (especially homozygous), the patient/client may
experience severe anxiety.

DAO variants may also create overexcitement in the brain, and may contribute to ammonia production as well.

BH4 is needed to create neurotransmitters. See the next page for BH4 production estimates, as low BH4 may impact neurotransmitter production.

Page 18 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
Gene Name Variants Metrics
Serotonin
MAO A (R297R) (rs6323) 1 GT 50.2% The MAO enzyme breaks down serotonin. Variants will actually preserve serotonin. This can be
helpful when there is low BH4, poor availability of amino acids that are the precursors to high
peroxynitrite.

Note: Males only have the potential for 1 MAO SNP. Currently, the software prints a 2 when there
is one for males. Females will print 0, 1 or 2. This will be modified soon, and only reflect 0 or 1 for
males.
There is one variant in MAO. This may impact the breakdown of serotonin.
MAO A 50%

Dopamine
COMT (MIR4761) (rs6269) 1 AG 46.8% COMT is involved in breaking down excitatory neurotransmitters and detox reactions. Click on the
enzyme rating for more information.
COMT H62H (MIR4761) (rs4633) 1 CT 49.0%
COMT V158M ( MIR4761) (rs4680) 1 GA 48.8%
COMT-61 P199P (mood swings) GG 95.7%
(rs769224)

COMT 63%

Glutamate Production Factors Product Name SNP Total Lab Total Symptoms
Glutamate Scavenger/Calming Formula 0 #N/A #N/A
BHMT-08 (rs651852) CC 27.3% If the theory is correct that BHMT-08 and CBS699T causes Homocysteine to be converted into
Glutamate, this estimate may give some clues if this needs support. Checking sulfite and sulfate
CBS C699T (rs234706) GG 45.5%
urine levels, and cortisol will give additional information. Glutamate Scavenger/Calming Formula
may help with the excess glutamate, SUOX Assist may be needed for supporting the sulfite to
sulfate process, and Ammonia Scavenger may be needed if the urea cycle is overwhelmed and
cannot clear all the ammonia. CBS/BHMT Assist will support the conversion of Homocysteine into
Methionine.

Potential Glutamate Reduction There are no BHMT-08 or CBS699T variants. This lessens the chance of excess glutamate, but
100% does not completely rule it out.
Ability
GABA (Glutamate to GABA)
GAD1 (rs3749034) GG 59.3% The GAD enzyme converts glutamate to GABA. When someone has high glutamate and a lot of
variants in GAD, it creates conditions that may have high glutamate and low GABA that could
GAD1 (rs2241165) 2 TT 54.2%
increase stress and conditions related to high glutamate. It has been observed, that Homozygous
GAD1 (rs769407) 2 CC 6.8% variants in GAD have more impact that many Heterozygous. SER-GAB Assist and GABA Assist may
GAD1 (rs2058725) TT 56.8% be helpful if there is low GABA.

GAD1 (rs3791851) 2 CC 6.8%


GAD1 (rs3791850) GG 57.9%
GAD1 (rs12185692) CC 35.7%
GAD1 (rs3791878) 2 TT 9.7%
GAD1 (rs10432420) GG 49.7%
GAD1 (rs3828275) CC 32.3%
GAD1 (rs701492) 2 TT 7.9%

Glutamate to GABA Conversion 55%

Page 19 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
GLS (Glutamine to Glutamate
Conversion)
GLS (rs1517354) 2 TT 84.5% GLS or Glutaminase encodes a protein that catalyzes the hydrolysis of glutamine to glutamate
and ammonia.
GLS (rs1921915) 2 AA 87.0%
GLS (rs3088307) 2 GG 18.4%
GLS (rs3771311) TT 77.7%
GLS (rs3771316) AA 81.8%
GLS (rs6758866) 2 GG 33.5%
GLS (rs62179862) AA 95.3%
GLS (Glutamine to Glutamate
43%
Conversion)
GLS2 (Glutamine to Glutamate
Conversion)
GLS2 (rs2638315) 2 CC 3.8% GLS2 or Glutaminase 2 encodes a protein that catalyzes the hydrolysis of glutamine to
stoichiometric amounts of glutamate and ammonia.
GLS2 (rs6581096) GG 48.1%
GLS2 (Glutamine to Glutamate
50%
Conversion)
GLUL (Glutamate to Glutamine
Conversion)
GLUL (rs12403634) 1 CT 29.1% GLUL or Glutamate-ammonia Ligase encodes a protein that catalyzes the synthesis of glutamine
from glutamate and ammonia in an ATP-dependent reaction.
GLUL (rs12735664) 1 AC 17.3%
GLUL (Glutamate to Glutamine
50%
Conversion)
Glutamate to Alpha- Product Name SNP Total Lab Total Symptoms
Ketoglutarate Conversion Pro Alpha Ketoglutarate Plus 0 #N/A #N/A
GLUD1 (rs9421574) 1 CT 16.6% GLUD1 or Glutamate Dehydrogenase 1 encodes glutamate dehydrogenase which catalyzes the
oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an
GLUD1 (rs1923939) 1 AG 34.2%
important role in regulating amino acid-induced insulin secretion.
GLUD1 (rs9421580) 1 CT 33.2%
GOT1 (rs12768505) CC 88.8% Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in
cytoplasmic and inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays
GOT1 (rs2234971) 1 CT 21.6% a role in the conversion of glutamate to alpha-ketoglutarate.
GOT1 (rs9971274) GG 84.4%
Glutamic-Pyruvate Transaminase also plays a role in the conversion of glutamate to alpha-
GOT1 (rs9971275) GG 84.3% ketoglutarate.
GOT1 (rs11190083) AA 84.3%
GOT1 (rs4328160) TT 81.3%
GOT1 (rs3793935) 2 TT 69.5%
GOT2 (rs30842) 1 AC 43.4%
GOT2 (rs30838) 1 TC 43.3%
GOT2 (rs863944) 1 AC 48.0%
GPT (rs1063739) 2 AA 22.0%
Glutamate to Alpha-
63%
Ketoglutarate Conversion
DAO
DAO (rs2070586) 1 GA 28.1% The name of this gene is D-amino-acid oxidase and DAO is the gene's official symbol. Health
conditions observed with this variant are: Schizophrenia, Bipolar Disorder, Primary Hyperoxaluria,
DAO (rs3741775) 1 AC 49.3%
ALS (Type 18) , Autism and Crohn's Disease.
DAOA (rs2391191) GG 38.3%
Studies have found that the A allele in rs2391191 is a possible genetic feature of certain health
conditions such as Schizophrenia, and Bipolar Disorder.
With two variants, there may be some stress/anxiety. When combined with high glutamate and
DAO 67% GAD variants, even more potential for stress/anxiety.

Page 20 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
Oxytocin Receptor
OXTR (rs2139184) CC 96.0% OXTR or Oxytocin Receptor encodes a protein that belongs to the G-protein coupled receptor
family and acts as a receptor for oxytocin. Oxytocin receptors regulate a variety of different
OXTR (rs11706648) 2 CC 10.8%
behaviors such as stress, anxiety, social recognition, bonding, and maternal behavior.
OXTR (rs237888) TT 87.8%
OXTR (rs2268492) 1 CT 39.7% Variants in this gene can lead to a higher sensitivity to stress, and conduct disorders.

OXTR (rs2268494) TT 83.6%


OXTR (rs35498753) TT 78.1%
OXTR (rs237893) 2 GG 19.4%
OXTR (rs11711703) AA 67.5%
OXTR (rs237901) GG 100.0%
OXTR (rs237902) GG 48.3%
OXTR (rs189386) CC 83.8%
OXTR (rs237906) CC 100.0%
OXTR (rs237907) CC 100.0%
OXTR (rs237908) CC 99.9%
OXTR (rs237915) 2 CC 8.4%
OXTR (rs35413809) GG 81.9%
OXTR (rs2301261) CC 82.3%
OXTR (rs9860869) TT 78.5%
OXTR (rs237897) 2 GG 27.4%
OXTR (rs237887) 2 AA 33.4%
OXTR (rs53576) 2 GG 46.3%
OXTR (rs7632287) GG 58.8%
OXTR (rs2268491) CC 75.9%
OXTR (rs2254298) GG 75.6%
OXTR (rs1042778) 2 TT 14.8%
OXTR (rs13316193) 1 TC 45.6%
OXTR (rs4686302) CC 77.8%

OXTR 70%

OXTR Empathy
OXTR (rs53576) 2 GG 46.3% For rs53576, studies have shown that individuals with the GG genotypes are more empathetic,
can become more attached, feel less lonely, have a decreased level of sociality, employ more
sensitive parenting techniques, and have lower rates of autism.
There are two variants in the OXTR rs53576. Variants in this gene have been shown to be
OXTR Empathy 100% associated with people who are more empathetic, feeling less lonely, employ more sensitive
parenting techniques, and have lower rates of autism.

BH4 Cycle, Nitric Oxide & Peroxynitrite (Inflammation) Estimates


The NOS enzyme uses BH4 and L-Arginine to create Nitric Oxide, the critical molecule needed for vasodilation and many other factors. If there is inadequate BH4 or
variants in NOS, the arginine may instead create the free radical superoxide. Superoxide then combines with nitric oxide to create the very strong oxidizing agent
peroxynitrite. This is called NOS uncoupling. NOS uncoupling causes inflammation and may weaken the immune system.

The more factors that lessen BH4, (A1298C, DHFR, QDPR) and the more NOS variants, and the more SOD variants, the higher the likelihood of peroxynitrite
production.

Urea cycle dysfunction will contribute to lowering BH4, because BH4 is needed to clear ammonia not removed by the Urea Cycle.

Page 21 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
Gene Name Variants Metrics
Nitric Oxide & NOS Product Name SNP Total Lab Total Symptoms
NOS Assist 7.5 #N/A #N/A
Pro SOD/Catalase Support 7.83 #N/A #N/A
NOS2 (rs2297518) GG 64.1% The NOS enzymes convert L-Arginine and BH4 into Nitric Oxide. Variants in the NOS enzymes and
if along with low BH4 will result in the free radical Superoxide being created instead. If there is
NOS2 (rs2274894) 2 GG 38.9%
not enough Superoxide Dismutase to neutralize the superoxide, the superoxide molecules
NOS2 (rs2248814) 2 GG 38.6% combines with Nitric Oxide to create the very dangerous and damaging Peroxynitrite, in a process
NOS3 (rs1800779) 2 AA 39.3% called NOS uncoupling.

NOS3 (rs3918188) 1 CA 46.2% NOS Assist supports the NOS Enzyme, while Nitric Oxide Accelerator does as well, but has L
NOS3 D298E (rs1800783) 2 TT 37.7% Arginine. L Arginine may be contraindicated with NOS variants and low BH4. NOS3 D298 may be
the most important NOS variant that impacts Nitric Oxide Production.

If there a lot of NOS variants, supporting SOD and Glutathione while scavenging Peroxynitrite
may be needed as well. Checking inflammation markers in Urine Organic Acids may be beneficial,
to determine if there is excess inflammation.

There are 12 NOS variants. NOS support is highly recommended. BH4 and Peroxynitrite
NOS Production 25% Scavenger may be needed as well.

BH4 Production Factors Product Name SNP Total Lab Total Symptoms
BH4 Assist 3.67 #N/A #N/A
Pro NADH 1.5 #N/A #N/A
CBS C699T (rs234706) GG 45.5% BH4 is critical for neurotransmitter production and making nitric oxide. Low BH4 can lead to
impaired neurotransmitter production and NOS uncoupling, thus resulting in the creation of the
BHMT-08 (rs651852) CC 27.3%
very dangerous, peroxynitrite. These variants may lower the production or recycling of BH4.
DHFR (rs1643649) TT 54.6%
SHMT2 (rs34095989) GG 38.1%
MTHFR A1298C (rs1801131) TT 47.7%
With no variants that support the production of BH4, production may be adequate. However,
BH4 100% check QDPR genes for recycling of BH2 to BH4.

BH2 to BH4 Conversion Product Name SNP Total Lab Total Symptoms
BH4 Assist 3.67 #N/A #N/A
Pro NADH 1.5 #N/A #N/A
QDPR (rs1031326) 1 TC 46.1% QDPR produces the enzyme quinoid dihydropteridine reductase that recycles BH2 to BH4.
Variants here, along with other variants that impact BH4 production, may contribute to NOS
QDPR (rs11722315) CC 67.1%
uncoupling, where the dangerous Peroxynitrite oxidizing agent is created.
QDPR (rs12645938) GG 91.5%
QDPR (rs3796809) 1 GA 37.9%
With two variants in QDPR, BH2 to BH4 conversion may be slightly compromised. However, DHFR
QPDR 75% also impacts BH2 to BH4 and MTHFR1298C supports the folinic acid needed for BH4. All of these
need to be taken into consideration.

Page 22 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
Peroxynitrite Factors Product Name SNP Total Lab Total Symptoms
NOS Assist 7.5 #N/A #N/A
Glutathione Accelerator 4.63 #N/A #N/A
Peroxynitrite Scavenger 4.5 #N/A #N/A
S Acetyl Glutathione 4.63 #N/A #N/A
Ammonia Scavenger 5.62 #N/A #N/A
Peroxynitrite Scavenger P.M. 4.5 #N/A #N/A
Pro SOD/Catalase Support 7.83 #N/A #N/A
GSH Assist 4.63 #N/A #N/A
Nrf2 Accelerator 4.5 #N/A #N/A
Pro NADH 1.5 #N/A #N/A
MTHFR A1298C (rs1801131) TT 47.7% The Peroxynitrite Support Estimate is a summation of all the variants that could contribute to the
creation of peroxynitrite. Reducing peroxynitrite may be the most important step you take
SHMT2 (rs34095989) GG 38.1%
nutritionally.
DHFR (rs1643649) TT 54.6%
QDPR (rs1031326) 1 TC 46.1% The variants listed here are related to those that reduce the creation of BH4 (MTHFR A1298C,
SHMT), those that would slow the recycling of BH2 to BH4 (DHFR and QDPR), those that would
QDPR (rs11722315) CC 67.1% reduce BH4 by creating excess ammonia (BHMT 08 and CB 699) and the variants that would
QDPR (rs12645938) GG 91.5% reduce SOD and glutathione. Also, look at the NOS variants that would make superoxide rather
than nitric oxide.
QDPR (rs3796809) 1 GA 37.9%
BHMT-08 (rs651852) CC 27.3% Reviewing this list may give you clues as to how severe peroxynitrite production is, and how
suited they are to reduce it with glutathione and SOD and the most appropriate strategies to
CBS C699T (rs234706) GG 45.5% reduce the peroxynitrite.
CTH (rs1021737) 1 GT 40.8%
Another component to consider, is to view the Urea Cycle function as well, as lowered urea
GSTM1 (rs1056806) CC 87.9% function will cause more BH4 to be used for ammonia reduction.
GSTP1 A114V (rs1138272) CC 84.3%
GSTP1 I105V (rs1695) 1 AG 44.4%
SOD2 (rs2758331) 2 AA 22.9%
SOD2 A16V (rs4880) 2 GG 24.4%
SOD3 (rs1799895) CC 97.7%
SOD3 (rs2855262) 1 TC 45.7%
NOS2 (rs2274894) 2 GG 38.9%
NOS2 (rs2248814) 2 GG 38.6%
NOS3 (rs3918188) 1 CA 46.2%
NOS2 (rs2297518) GG 64.1%
NOS3 (rs1800779) 2 AA 39.3%
NOS3 D298E (rs1800783) 2 TT 37.7%
Peroxynitrite Reduction
55%
Efficiency

Vitamin D, Cell Membrane, Intestinal Bacteria, SHBG & Cardiovascular, Iron


These SNPs may be reflective of need for Vitamin D, prebiotics, hormonal support and cardiovascular support.

Page 23 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
Gene Name Variants Metrics
Vitamin D Receptor Product Name SNP Total Lab Total Symptoms
Vitamin D3 5000 10 #N/A #N/A
VDR BSM (rs1544410) 2 TT 15.2% Variants in the VDR (Vitamin D receptor) Taq may lower the Vitamin D in the body and
supplementation is needed. More information will be coming on the VDR Fol and VDR BSM. The
VDR Fok (blood sugar) (rs2228570) AA 14.1%
Vitamin D rating, is only calculated based upon the TAQ, and not the other Vitamin D genes.
VDR Taq (methy group) (rs731236) 2 GG 14.9% More information will be added here on the others in the future.
There are 2 variants. Measure Vitamin D, and consider 10,000 IU/day supplementation.
Vitamin D Production (TAQ Only) 0%

Cell Membrane Protection


G6PD (rs1050828) CC 99.7% Information coming soon.
G6PD (rs1050829) TT 98.9%

G6PD 100%

SHBG
SHBG (rs1799941) GG 58.0% Variants in the SHBG gene may cause dysregulation in testosterone and estrogen levels and
lowered progesterone. Hormone testing may be in order if hormonal symptoms exist. For Men
(especially older men), SHBG variants may indicate more circulating SHBG resulting in lowered
testosterone levels. For women, SHGB variants may indicate less SHBG resulting in higher
androgen levels overall.
There are no variants in the SHBG genes. This lessens the changes of hormonal issues from SHBG.
SHBG 100%

Cardiovascular Genes Product Name SNP Total Lab Total Symptoms


Circulation Accelerator 8.66 #N/A #N/A
ACE Del 16 (rs4343) 1 GA 49.5% Variants in these genes may contribute to circulatory issues. More information coming soon.
ADD1 G460W (rs4961) GG 65.0%
AGT M235T/C4072T (rs699) 2 GG 20.4%
MTHFR C677T (rs1801133) 1 GA 45.0%
The more SNPs in these genes, the higher the risk for cardiovascular issues, especially when
Cardio Protection 50% combined with carnitine and ACAT variants.

HFE Product Name SNP Total Lab Total Symptoms


HFE Assist 8.35 #N/A #N/A
HFE C282Y (rs1800562) GG 89.2% H63D represents a SNP that accounts for a mild form of hereditary hemochromatosis (HH), an
iron overload condition in which mutations of certain genes involved in iron metabolism disrupt
HFE H63D (rs1799945) CC 74.4%
the body's ability to regulate uptake of iron, causing increased intestinal iron absorption. The
HFE S65C (rs1800730) AA 97.2% most common form is caused by mutations in the HFE gene, which are inherited recessively.
HFE (rs1572982) 1 GA 49.1%
A mutation at amino acid 282 (C282Y) was found to be homozygous in 83 percent of patients
HFE 6382T>G (rs2794719) TT 36.6% with HH. This is a point mutation from guanine to adenine, resulting in a missense mutation from
HFE 8828T>C (rs2071303) 1 TC 44.0% cysteine to tyrosine. Such mutations are commonly found in people with European ancestry.

The three most common HH-causing mutations in the HFE gene are C282Y and S65C At least 17
other mutations in the HFE gene have been linked to HH. 60-90% of people with HH have two
copies of the C282Y mutation. The H63D mutation is also quite common, about 20% of people
carry a copy of the mutation, and about 3% have two copies. This mutation is not as severe as
the C282Y mutation, and only causes symptoms when someone has both the H63D and the
C282Y mutations. Even then, only a small fraction of people with one copy of each mutation
actually exhibit evidence of iron overload. Additionally, those who have two copies of H63D do
not exhibit any symptoms and are not at risk for iron overload. The S65C mutation is less
common, and will also only cause symptoms if in combination with C282Y. For both H63D/C282Y
and S65C/C282Y single mutation individuals, symptoms are usually mild if they develop at all.

HFE 83%

Page 24 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
Iron oxidation Potential Product Name SNP Total Lab Total Symptoms
HFE Assist 8.35 #N/A #N/A
Pro SOD/Catalase Support 7.83 #N/A #N/A
GSH Assist 4.63 #N/A #N/A
Pro NADH 1.5 #N/A #N/A
BHMT-08 (rs651852) CC 27.3% HFE SNPS, in combination with these others, may increase the potential for Oxidized Iron. More
information coming soon.
CBS C699T (rs234706) GG 45.5%
CTH (rs1021737) 1 GT 40.8%
GSTM1 (rs1056806) CC 87.9%
GSTP1 A114V (rs1138272) CC 84.3%
GSTP1 I105V (rs1695) 1 AG 44.4%
HFE C282Y (rs1800562) GG 89.2%
HFE H63D (rs1799945) CC 74.4%
HFE S65C (rs1800730) AA 97.2%
SOD2 (rs2758331) 2 AA 22.9%
SOD2 A16V (rs4880) 2 GG 24.4%
SOD3 (rs1799895) CC 97.7%
SOD3 (rs2855262) 1 TC 45.7%

Iron Oxidation Potential 73%

DNA Repair
DNA repair genes code the proteins whose normal function is to correct errors that arise when cells duplicate their DNA prior to cell division. These errors in the DNA
can occur from things such as ultraviolet light, inhaled cigarette smoke, or endogenous weak mutagens.

Mutations in the DNA repair genes can lead to a failure in correcting the DNA, which in turn allows subsequent mutations to accumulate.

If the rate of DNA damage exceeds the capacity of the cell to repair itself, the buildup of errors can overwhelm the cell.

Gene Name Variants Metrics


mutL homolog 1 Product Name SNP Total Lab Total Symptoms
Cellular Health Assist 7.74 #N/A #N/A
MLH1 (rs1800734) 2 AA 5.6% The MLH1 gene provides the instructions for making a protein that plays an essential role in DNA
repair. This protein helps fix mistakes that are made when DNA is copied in DNA replication in
MLH1 (rs35045067) AA 99.9%
preparation for cell division.

MLH1 50%

Page 25 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
Ataxia telangiectasia mutated
ATM (rs1801516) GG 73.8% The main role of ATM is to repair double-stranded DNA breaks.
ATM (rs664143) 2 GG 34.9%
The first 9 are shown to be the most relevant, and the last 9 are included for informational
ATM (rs664677) 2 TT 35.1% research purposes.
ATM (rs1801673) AA 98.4%
Studies have shown that variants in the most relevant genes listed can increase chances of cells
ATM (rs1800058) CC 96.4% being damaged from oxidative stress and not repairing as quickly. It would be advantageous for
ATM (rs1800056) TT 97.5% individuals with these variants to reduce exposure to free radical producing agents and support
anti-oxidant protection.
ATM (rs1800054) CC 97.8%
ATM (rs3218707) GG 99.7% For now, we have no suggested protocols, other than adequately controlling oxidative stress. This
information is just being presented now for research purposes.
ATM (rs3092856) CC 99.5%
ATM (rs623860) 2 TT 35.1%
ATM (rs2235006) TT 99.8%
ATM (rs3092857) AA 99.8%
ATM (rs227060) 2 TT 11.2%
ATM (rs227062) 2 AA 33.3%
ATM (rs17412803) AA 92.4%
ATM (rs227092) 2 TT 31.8%
ATM (rs600931) 2 TT 33.2%

ATM (Most Relevant) 78%

ATM ( All Genes) 59%

Urea Cycle
Ammonia is the product of oxidative deamination reactions and is a toxin even in small amounts and must be removed from the body. The urea cycle facilitates the
removal of ammonia as urea. The ammonia is first converted into urea in the liver. After conversion, the urea is then transported to the kidneys where it is excreted.

A urea cycle disorder can occur if there is a mutation that results in a deficiency of CPS1, OTC, ASS1, ASL, or ARG1 which could result in higher ammonia concentration
in the blood.

Page 26 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
Gene Name Variants Metrics
Carbamoyl-Phosphate Synthase Product Name SNP Total Lab Total Symptoms
1 Ammonia Scavenger 5.62 #N/A #N/A
A-L-O Formula 0 #N/A #N/A
CPS1 (rs918233) 2 TT 42.7% The enzyme encoded by this gene catalyzes the synthesis of carbamoyl phosphate from ammonia
and bicarbonate. This synthesis is the first step in the Urea Cycle.
CPS1 (rs1509821) CC 81.6%
CPS1 (rs981024) GG 36.5% Carbamoyl phosphate is an intermediary metabolite in nitrogen disposal.
CPS1 (rs2012564) AA 35.6%
A mutated CPS1 gene may result in a carbamoyl phosphate synthetase I enzyme that is smaller
CPS1 (rs17773128) CC 85.4% than normal, not correct in shape, or the enzyme may not be produced at all.
CPS1 (rs6749597) GG 74.3%
Studies have shown that polymorphisms in the CPS1 gene have been associated with pulmonary
CPS1 (rs2887913) AA 36.5% hypertension. Polymorphisms in CPS1 may also reduce the production of nitric oxide (NO). A
CPS1 (rs9789405) CC 74.3% reduced amount of nitric oxide can also lead to circulatory problems.

CPS1 (rs2287603) AA 64.4%


CPS1 (rs2287602) AA 74.6%
CPS1 (rs10515951) GG 85.7%
CPS1 (rs6714124) CC 25.9%
CPS1 (rs7573258) GG 18.1%
CPS1 (rs2371000) TT 18.0%
CPS1 (rs2371001) AA 25.7%
CPS1 (rs3821135) TT 76.9%
CPS1 (rs7607205) TT 35.7%
CPS1 (rs12468557) CC 40.6%
CPS1 (rs2302909) GG 84.5%
CPS1 (rs2371011) 2 GG 8.7%
CPS1 (rs13010236) TT 82.6%
CPS1 (rs2287598) 2 GG 67.8%
CPS1 (rs6435580) CC 45.6%
CPS1 (rs2270476) GG 88.2%
CPS1 (rs12997383) CC 75.6%
CPS1 (rs4672587) 2 GG 10.3%
CPS1 (rs4567871) CC 75.8%

CPS1 85%

Ornithine Transcarbamylase Product Name SNP Total Lab Total Symptoms


Ammonia Scavenger 5.62 #N/A #N/A
A-L-O Formula 0 #N/A #N/A
OTC (rs72554348) GG 99.9% The OTC gene is responsible for providing the instructions for making the enzyme ornithine
transcarbamylase Ornithine transcarbamylase controls the reaction between carbamoyl
OTC (rs7056866) 1 GA 49.1%
phosphate (From the first step of the urea cycle) with ornithine to form citrulline.
OTC (rs5917584) 1 CT 31.2%
OTC (rs5963418) GG 78.7% A mutated OTC gene will not be able to control the reaction between carbamoyl phosphate and
ornithine correctly. This in turn can cause a buildup of ammonia in the body.
OTC (rs5963419) TT 47.3%
OTC (rs12557315) 1 CT 30.3%

OTC 75%

Page 27 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
Argininosuccinate synthase 1 Product Name SNP Total Lab Total Symptoms
Ammonia Scavenger 5.62 #N/A #N/A
A-L-O Formula 0 #N/A #N/A
ASS1 (rs12554609) TT 84.4% The ASS1 gene is responsible for providing the instructions for making the enzyme
argininosuccinate synthase 1. Argininosuccinate synthase 1 controls the reaction between the
ASS1 (rs11243372) AA 32.3%
two amino acids citrulline (From the second step of the urea cycle) and aspartate to form
ASS1 (rs4740158) 2 CC 55.5% argininosuccinic acid.
ASS1 (rs914983) 2 GG 45.1%
A mutated ASS1 gene can prevent the liver from processing excess nitrogen into urea. This in turn
ASS1 (rs1615006) GG 11.4% can cause a buildup of ammonia and other byproducts of the urea cycle (for example citrulline) in
ASS1 (rs1653332) GG 16.2% the bloodstream.

ASS1 (rs1215988) GG 39.0%


ASS1 (rs1215985) 2 TT 56.1%
ASS1 (rs590086) 2 TT 81.7%
ASS1 (rs12551145) GG 86.1%
ASS1 (rs10901072) CC 77.6%
ASS1 (rs652313) 2 GG 74.8%
ASS1 (rs1215972) 2 AA 76.0%
ASS1 (rs41302903) 1 GA 11.3%
ASS1 (rs75912463) TT 97.8%
ASS1 (rs540140) GG 51.8%
ASS1 (rs480313) GG 51.6%
ASS1 (rs11243474) GG 75.2%
ASS1 (rs474330) GG 47.8%
ASS1 (rs17147023) TT 59.0%
ASS1 (rs553696) AA 45.5%
ASS1 (rs12375699) 2 TT 19.2%
ASS1 (rs634432) 2 TT 71.7%
ASS1 (rs544701) AA 76.1%

ASS1 65%

Argininosuccinate Lyase Product Name SNP Total Lab Total Symptoms


Ammonia Scavenger 5.62 #N/A #N/A
A-L-O Formula 0 #N/A #N/A
ASL (rs12530898) GG 91.7% The ASL gene is responsible for providing the instructions for making the protein
argininosuccinate lyase. Argininosuccinate lyase creates arginine and fumarate from
ASL (rs313830) 1 TC 37.6%
argininosuccinate acid (From the third step of the urea cycle). The arginine is later broken down
ASL (rs313829) 1 AG 40.8% into urea and is excreted from the body.

A mutated ASL gene may not be able to form arginine and fumarate properly. This could lead to a
buildup of ammonia in the blood.

ASL 67%

Page 28 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
Arginase 1 Product Name SNP Total Lab Total Symptoms
Ammonia Scavenger 5.62 #N/A #N/A
A-L-O Formula 0 #N/A #N/A
ARG1 (rs2246012) TT 70.7% The ARG1 gene is responsible for providing the instructions for making the enzyme arginase.
Arginase controls the last step of the urea cycle. In this step, arginase removes nitrogen from
arginine (From the fourth step in the urea cycle) and converts this nitrogen into urea to be
excreted from the body. Ornithine is also produced in this reaction which is then used to repeat
the cycle.

A mutated ARG1 gene may not be able to from a stable arginase enzyme. This can cause a build
of ammonia and arginine in the body.

ARG1 100%

Variants that Impact Exercise and Fitness Potential

Gene Name Variants Metrics


Muscle Fiber Composition
ACTN3 (rs1815739) CC 31.8% Muscles are made up of two main types of muscle fibers, "fast-twitch" and
"slow-twitch." Endurance athletes tend to have more slow-twitch muscle, while
sprinters tend to have more fast-twitch muscle. Some of the variation in muscle fibers is
dependent on a protein called alpha-actinin-3.

The ACTN3 gene contains instructions for making alpha-actinin-3. The alpha-actinin-3 protein can
be found in certain types of fast-twitch muscle fibers. People who make this protein tend to have
a greater proportion of fast-twitch muscle and are better sprinters than people who do not make
this protein.
With 0 variants in the ACTN3 gene, this person has fast-twitch muscle fiber and is likely a sprinter.
Muscle Fiber Composition 100%

Aerobic Exercise Potential


ADRB2 (rs1042713) 2 GG 38.6% Our bodies need oxygen while exercising. VO2 max is a test that can be used by scientist to
measure the optimum rate at which someone’s body can effectively use oxygen when
ADRB2 (rs1042714) 2 GG 16.9%
exercising. There are certain genes that can help at better understanding someone’s
PPARGC1A (rs8192678) 2 TT 11.0% natural VO2 max capacity.
VEGF (rs833069) 1 CT 43.6%
Studies have shown that individuals with a higher number of variants in these genes are less
responsive to endurance training.

Aerobic Exercise Potential 13%

Exercise Recovery Speed


CRP (rs1205) 2 CC 43.9% Research has shown that certain genetic factors can determine whether or not someone can
quickly recover after workouts.
IL6 (rs1800795) GG 38.7%
IL6R (rs4129267) 1 TC 48.1% Studies have shown that individuals with variations in these genes require longer recovery times
SOD2 A16V (rs4880) 2 GG 24.4% due to higher levels of inflammation during strenuous exercise.

TNFA (rs1800629) GG 72.0%

Exercise Recovery Speed 50%

Page 29 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
Exercise Injury Risk
COL1A1 (rs1800012) 2 CC 67.9% Research has shown that certain genetic factors can determine an individuals exercise injury risk.
COL5A1 (rs12722) 1 CT 46.9%
Studies have shown that individual's with variations in these genes are at higher risk for tendon
GDF (rs224329) CC 36.9% and ligament injuries.

Exercise Injury Risk 50%

FTO
FTO or Fat Mass and Obesity Associated, is a Protein Coding gene. Variations in this gene may
cause growth delay, developmental delay, facial dysmorphism and overnutrition.

All 63 of the FTO SNPs can be viewed in the Gene Report.

FTO 52%

FADS
FADS1 (rs174546) CC 45.1% The proteins encoded by the FADS1, FAD2, and FADS3 genes are members of the fatty acid
desaturase (FADS) gene family. Desaturase enzymes regulate the unsaturation of fatty acids
FADS1 (rs174547) TT 45.1%
through the introduction of a double bond between the carbons of the fatty acyl chain.
FADS1 (rs174548) CC 49.2%
FADS1 (rs174549) GG 50.6% A fatty acid is a carboxylic acid with a long aliphatic chain. This aliphatic chain can either be
saturated or unsaturated. Fatty acids that have carbon-carbon double bonds are known as
FADS1 (rs174550) TT 45.1% unsaturated. Fatty acids without double bonds are known as saturated.
FADS1 (rs174556) CC 50.8%
Fatty acids are usually derived from triglycerides or phospholipids. Fatty acids are important
FADS2 (rs174570) CC 73.2% sources of fuel because, when they are metabolized, they yield large quantities of ATP. Fatty acid
FADS2 (rs1535) AA 44.6% composition in membranes plays an important role in cellular processes. Many cell types can use
either glucose or fatty acids for this purpose.
FADS2 (rs174575) CC 55.9%
FADS2 (rs174576) CC 43.4% Variations in these genes may affect long-chain polyunsaturated fatty acids metabolism.

FADS2 (rs2072114) AA 77.5%


FADS2 (rs174579) CC 63.3%
FADS2 (rs2851682) AA 81.9%
FADS2 (rs174592) AA 39.7%
FADS2 (rs174602) TT 60.6%
FADS2 (rs498793) TT 16.7%
FADS2 (rs174611) TT 51.9%
FADS2 (rs482548) CC 82.2%
FADS3 (rs174450) 2 TT 27.4%
FADS3 (rs1000778) 2 GG 53.7%

FADS1 100%

FADS2 100%

FADS3 0%

FADS Total 90%

Electrical Sensitivity Potential

Page 30 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
Gene Name Variants Metrics
CACNA1C
CACNA1C (rs216013) AA 70.5% This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels
mediate the influx of calcium ions into the cell upon membrane polarization.
CACNA1C (rs2159100) CC 45.5%
CACNA1C (rs1006737) GG 45.4% Variants in these genes may impact the potential to have negative effects from high levels of
CACNA1C (rs2302729) 1 CT 29.2% electrical field exposure.

CACNA1C 88%

Lyme Study Phase I SNPs


These are the SNPS that were found to be most prevalent for individuals with chronic Lyme, and is not a test for Lyme. Inherited genetic mutations when expressed
may reduce enzyme production. This can lead to, nutrient deficiencies, an increased production of free radicals or other toxic substances, or a slow clearing of toxic
substances. Any one of these or a combination of may have the potential to allow Lyme to be resistant to traditional treatment by suppressing the immune system or
susceptible to creating toxic conditions.

Gene Name Variants Metrics


HFE and Potential Hydroxyl
Radical Production SNPs
HFE C282Y (rs1800562) GG 89.2% The following SNPs may increase the potential of the Fenton Reaction and those with Lyme had a
higher number of SNPs in each of the genes. CBS699 and BHMT-08 may increase the cysteine,
HFE H63D (rs1799945) CC 74.4%
while the glutathione variants may slow the conversion of cysteine into glutathione. Variants in
CBS C699T (rs234706) GG 45.5% SOD genes may slow the ability to neutralize the hydroxyl radicals.
BHMT-08 (rs651852) CC 27.3%
Further research is needed to determine if iron oxidation from the Fenton Reaction is a
SOD2 (rs2758331) 2 AA 22.9% contributing factor to those with chronic Lyme, and if nutritional interventions with nutrients
SOD2 A16V (rs4880) 2 GG 24.4% that may slow iron absorption, regulate iron, support cysteine to glutathione conversion and
NADH to recycle glutathione and superoxide dismutase may be an appropriate holistic support.
GSTP1 A114V (rs1138272) CC 84.3%
GSTP1 I105V (rs1695) 1 AG 44.4%
CTH (rs1021737) 1 GT 40.8%
PEMT (rs4244593) TT 17.0%
PEMT (rs7946) 1 CT 40.9%
PEMT (rs4646406) TT 25.7%
HFE and Potential Hydroxyl
71%
Radical Production SNPs
Mitochondrial Function SNPs
SLC22A5 (rs17622208) 1 GA 48.1% The following SNPs relate to mitochondrial function.
SLC22A5 (rs2073643) 1 TC 49.1%
These findings may suggest that lowered energy production in the Krebs Cycle, may be a
SLC22A5 (rs1045020) CC 79.0% contributing factor to Chronic Lyme. Further studies of these findings are needed to confirm if
ACAT-2 (rs3465) GG 38.9% these observations are clinically relevant, and if nutritional intervention with carnitine, choline,
NADG, CoQ10 and pantethene may be a useful therapy when these variants are present.
ACAT-2 (rs3798211) 2 CC 31.1%
ACAT-2 (rs25683) 2 GG 31.4%
NDUFS7 (rs1142530) 1 CT 46.0%

Mitochondrial Function SNPs 50%

Page 31 of 32 on 10/10/2016 1:12:34 PM


Patient: First/Last Name
Methylation Cycle SNPs
MTHFR C677T (rs1801133) 1 GA 45.0% These findings may suggest that an increased amount of SNPs in the MTHFR gene, in particular,
and the entire Methylation pathway, may be a contributing factor in chronic Lyme. Further
MTHFR A1298C (rs1801131) TT 47.7%
studies of these findings are needed to confirm if these observations are clinically relevant.

As a result of these observations, further analysis on a larger scale, and other lab testing may be
warranted to see if these observed variants play a role in Chronic Lyme Disease and if
supplementation of methyl folate, methyl B12, choline, B6, TMG and SAMe may be helpful
holistic therapies.

Methylation Cycle SNPs 75%

Urea Cycle SNPs


CPS1 (rs1509821) CC 81.6% The following SNPs relate to the Urea Cycle.
CPS1 (rs6435580) CC 45.6%
As a result of these observations, larger scale testing and associated lab work may be needed to
CPS1 (rs12468557) CC 40.6% see if these variants create increased ammonia burden and are clinically significant in those with
CPS1 (rs7607205) TT 35.7% Chronic Lyme Disease, and if supporting the Urea Cycle and ammonia clearance would be an
appropriate nutritional therapy. Digestive support therapies that reduce ammonia may be
ASS1 (rs12375699) 2 TT 19.2% appropriate as well.
ARG2 (rs3742879) 1 AG 40.2%
ARG2 (rs742869) 1 GA 47.8%

Urea Cycle SNPs 71%

Detoxification SNPs
CYP1A1*4 C2453A (rs1799814) GG 91.4% The following SNPs relate to detoxification.
CYP1B1 N453S (rs1800440) TT 67.9%
As a result of these observations, larger scale testing and associated lab work may be needed to
PON1 (rs854561) 2 TT 12.9% see if these variants are clinically significant in those with Chronic Lyme Disease, and if
SOD2 (rs2758331) 2 AA 22.9% supporting the detox mechanisms controlled by CYP, PON1, SOD, and glutathione would be an
appropriate nutritional therapy. Additional nutritional therapies that scavenge peroxynitrite
GSTP1 A114V (rs1138272) CC 84.3% should be investigated as well.

Detoxification SNPs 60%

Glutamate SNPs
GAD1 (rs3791850) GG 57.9% The following SNPs relate to glutamate.
GAD1 (rs3828275) CC 32.3%
As a result of these findings, future research may be needed to see if higher glutamate levels and
GAD1 (rs12185692) CC 35.7% peroxynitrite are associated with symptoms related to Lyme Disease, or if supporting the
GAD1 (rs3791878) 2 TT 9.7% conversion into GABA may be a part of a holistic treatment plan.

Glutamate SNPs 75%

DNA Repair SNPs


ATM (rs1801516) GG 73.8% If those with chronic Lyme disease have higher rates of oxidative stress due to mitochondrial
dysfunction, lowered ability to detox, iron oxidation, etc., higher rates of variants in the ATM
genes may also play a contributing role. Further research may be warranted.

DNA Repair SNPs 100%

Total Lyme Study SNPs

Total Lyme Study Phase I SNPs 67%

Page 32 of 32 on 10/10/2016 1:12:34 PM

You might also like