?SNP Report
?SNP Report
?SNP Report
Jim@DrRobart.com
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.
KIAA1109 100%
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%
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 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.
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.
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.
PANK1 71%
PANK2 43%
PANK3 100%
PANK4 75%
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%
In our Phase II Lyme study, we found that variants in TALDO1 were much higher in patients with
Lyme Disease
TALDO1 100%
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%
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.
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.
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.
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%
NAT1 82%
NAT2 72%
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
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.
PNPLA3 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.
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.
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.
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.
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.
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.
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.
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%
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%
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.
MLH1 50%
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.
CPS1 85%
OTC 75%
ASS1 65%
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%
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%
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%
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.
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.
FADS1 100%
FADS2 100%
FADS3 0%
CACNA1C 88%
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.
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.
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.