My genetics

elevated-riskYesterday evening I ran up to my computer and started clicking madly in every direction after I saw an email from alerting me that my genetic profile was ready. No methylation or detox information in sight but lots of other interesting things (see image on right). My risk of developing Parkinson’s or Alzheimer’s is below average – awesome! Maybe I will thrive into old age after chelating out the heavy metals.

It took me about 15 minutes just to dig up the website where people get their raw data interpreted automatically for methylation info. That is something called Sterling’s app and it cost $20. Here’s a list of analyzers:

My results from Sterling’s app below. Guessing it will take weeks or months or longer for me to understand the key sections – detox, methylation and mitochondrial. Right now, I’m clueless.

Update: I’ve learned a lot since receiving my results and have posted the research below underneath the various results it applies to – hope this may help you evaluate your own genetics. Amazingly, 23andme identified my mother’s maiden name in the ancestry results. Actually, they show the top five relative surnames and the number one surname happens to be my mom’s maiden name! The other four names are also quite illustrious.

If you’re unfamiliar with basic genetics, there’s a primer below.

Gene & Variation rsID # Risk Allele Your Alleles & Results
CYP1A1*2C A4889G rs1048943 C TT -/-
CYP1A1*4 C2453A rs1799814 T GG -/-
CYP1A2 C164A rs762551 C AC +/-
CYP1B1 L432V rs1056836 C CG +/-
CYP1B1 N453S rs1800440 C TT -/-
CYP1B1 R48G rs10012 C GG -/-
CYP2A6*2 A1799T rs1801272 T AA -/-
CYP2C19*17 rs12248560 T CC -/-
CYP2C9*2 C430T rs1799853 T CC -/-
CYP2C9*3 A1075C rs1057910 C AA -/-
CYP2D6 S486T rs1135840 G GG +/+
CYP2D6 T100C rs1065852 A GG -/-
CYP2D6 T2850C rs16947 A AA +/+
CYP2E1*1B G9896C rs2070676 G CC -/-
CYP2E1*4 A4768G rs6413419 A GG -/-
CYP3A4*1B rs2740574 C TT -/-
CYP3A4*3 M445T rs4986910 G AA -/-
CYPs are primarily membrane-associated proteins located either in the inner membrane of mitochondria or in the endoplasmic reticulum of cells. CYPs metabolize thousands of endogenous and exogenous chemicals. Some CYPs metabolize only one (or a very few) substrates, such as CYP19 (aromatase), while others may metabolize multiple substrates. Both of these characteristics account for their central importance in medicine. Cytochrome P450 enzymes are present in most tissues of the body, and play important roles in hormone synthesis and breakdown including estrogen and testosterone synthesis and metabolism, cholesterol synthesis, and vitamin D metabolism. Cytochrome P450 enzymes also function to metabolize potentially toxic compounds, including drugs and products of endogenous metabolism such as bilirubin, principally in the liver.rs762551 (C) allele is a slow metabolizer or of certain substrates including caffeine which means I’m more stimulated by it than most people.rs1056836 increases susceptibility to lung and breast cancer, blocks testosterone and inhibits mitochondrial function.rs1135840 is involved in the metabolism of approximately 25% of all medications and most psych meds including antipsychotics and antidepressants.
GPX3 rs8177412 C TT -/-
GSTM1 rs12068997 T CC -/-
GSTM1 rs4147565 A GG -/-
GSTM1 rs4147567 G AA -/-
GSTM1 rs4147568 A TT -/-
GSTM1 rs1056806 T CC -/-
GSTM1 rs12562055 A TT -/-
GSTM1 rs2239892 G AA -/-
GSTP I105V rs1695 G AG +/-
GSTP1 A114V rs1138272 T CC -/-
GSTP genes encode the Glutathione S-transferase P enzyme. Glutathione S-transferases (GSTs) are a family of enzymes that play an important role in detoxification by catalyzing the conjugation of many hydrophobic and electrophilic compounds with reduced glutathione. Mutations here will increase your need for glutathione and importance of chelating out mercury.rs1695 influences asthma risk.
NAT1 A560G(?) (R187Q) rs4986782 A GG -/-
NAT2 A803G (K268R) rs1208 G GG +/+
NAT2 C190T (R64W) rs1805158 T CC -/-
NAT2 G590A (R197Q) rs1799930 A GG -/-
NAT2 G857A (G286E) rs1799931 A GG -/-
NAT2 T341C (I114T) rs1801280 C CC +/+
NAT2 encodes N-acetyltransferases which are enzymes acting primarily in the liver to detoxify a large number of chemicals, including caffeine and several prescribed drugs. The NAT2 acetylation polymorphism is important because of its primary role in the activation and/or deactivation of many chemicals in the body’s environment, including those produced by cigarettes as well as aromatic amine and hydrazine drugs used medicinally. In turn, this can affect an individual’s cancer risk.I have a particular combination of NAT2 polymorphisms – rs1801280 (C) + rs1208 (G) which makes me a ‘slow metabolizer’. In general, slow metabolizers have higher rates of certain types of cancer and are more susceptible to side effects from chemicals (known as MCS) metabolized by NAT2.
SOD2 rs2758331 A AA +/+
SOD2 rs2855262 T CT +/-
SOD2 A16V rs4880 G GG +/+
SOD2 gene is a member of the iron/manganese superoxide dismutase family and may be one of the key sources of my troubles. This protein transforms toxic superoxide, a byproduct of the mitochondrial electron transport chain, into hydrogen peroxide and diatomic oxygen. In simpler terms, the more energy your mitochondria produce, the more byproducts (also called free radicals) get produced. These toxic byproducts tear up cell membranes and walls through a process called oxidative stress.Mutations in the SOD2 gene diminish your ability to transform these toxic byproducts into harmless components. People with SOD2 polymorphisms may not tolerate nitrates or fish oil well. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), sporadic motor neuron disease, and cancer.

Now what about SOD1 & 3? I don’t know why it doesn’t appear on this report but I was able to get some information on it from Livewello and it looks like I am much better off there. Here’s my SOD1 and SOD3 status. Just for kicks, I decided to run SOD2 and I find it shows a much different picture than sterling’s app: my SOD 2 on Livewello. Notice how it shows that I do have some working SOD2  genes!

PON1 Q192R rs662 C CT +/-
Gene & Variation rsID # Risk Allele Your Alleles & Results
CTH S4031I rs1021737 T GT +/-
IRF6 rs987525 A AC +/-
IRF6 rs861020 A AG +/-
RARA rs7217852 G AA -/-
RARA rs9904270 T CC -/-
TBX22 rs41307258 A T
TBX22 rs28935177 T A
Gene & Variation rsID # Risk Allele Your Alleles & Results
HLA rs7775228 C TT -/-
HLA rs2155219 T GT +/-
Gene & Variation rsID # Risk Allele Your Alleles & Results
FCER1A rs2427837 A AG +/-
IL-13 C1112T rs1800925 T CC -/-
DARC rs2814778 C TT -/-
IL13 rs1295685 A GG -/-
CD14 rs2569191 C CC +/+
SOCS-1 -820G>T rs33977706 A CC -/-
C3 rs366510 G GT +/-
FCER1A / OR10J2P rs2494262 A AA +/+
FCER1A rs2251746 C CT +/-
RAD50 rs2040704 G AA -/-
RAD50 rs2240032 T CC -/-
Gene & Variation rsID # Risk Allele Your Alleles & Results
FCGR2A rs1801274 A AA +/+
GSTM3 V224I rs7483 T CC -/-
TNFRSF13B rs4792800 G AA -/-
Gene & Variation rsID # Risk Allele Your Alleles & Results
TRAF1 rs3761847 G AG +/-
IRF5 rs4728142 A AA +/+
IGF1R rs2229765 A AA +/+
IFIH1 (HLA) rs1990760 C TT -/-
HLA rs9271366 G AA -/-
CFH rs6677604 A AG +/-
HLA-DQA2 rs9275224 A AG +/-
MTC03P1 rs9275596 C CT +/-
PSMB8 / TAP1 / TAP2 rs9357155 A GG -/-
HLA-DPB2 / COL11A2P rs1883414 A AA +/+
Gene & Variation rsID # Risk Allele Your Alleles & Results
CETP rs1800775 C AA -/-
CYP4V2 rs13146272 C AC +/-
GP6 rs1613662 G AA -/-
ITGB3 T196C rs5918 C CT +/-
KNG I598T rs2731672 T CT +/-
NR1I2 rs1523127 C AC +/-
SERPINC1 rs2227589 T CT +/-
HRG rs9898 T CC -/-
F12 rs1801020 A AG +/-
F11 rs2289252 T CT +/-
F11 rs2036914 T CT +/-
F10 113777509 rs3211719 G AG +/-
F7 A353G rs6046 A GG -/-
F2 (Prothrombin 20210A) i3002432 A GG -/-
F3 94997288 rs1324214 A AA +/+
F5 (Factor V Leiden) rs6025 T CC -/-
F9 G580A rs6048 G G +
Gene & Variation rsID # Risk Allele Your Alleles & Results
ACE Del16 rs4343 G AG +/-
ACE (heterozygous mutation) – converts Angiotensin I, a weak vasoconstrictor, into Angiotensin II, a powerful vasoconstrictor, which can cause endothelial dysfunction, free radical stress, and stimulate the release of aldosterone from the adrenal gland. Cofactors are zinc and chloride.High aldosterone wastes magnesium and potassium, retains sodium, and stiffens the heart. Decreased potassium can lead to fatigue and decreased energy production as cellular membrane activation especially in the brain and peripheral nervous system is dependent upon sodium/potassium balance.In adults drug therapy and possibly flavonoidshibiscus extract, arginine and pomegranate can be used to block ACE and aldosterone.  In kids, pay attention to electrolyte levels.
ADD1 G460W rs4961 T GG -/-
ACAT1-02 rs3741049 A GG -/-
AGT M235T/C4072T rs699 G AA -/-
AHCY-01 rs819147 C CT +/-
AHCY-02 rs819134 G AG +/-
AHCY-19 rs819171 C CT +/-
AHCY (various heterozygous mutations) – SAMe is the key methyl donor generated from methionine; it is metabolised to homocysteine by AHCY. A defect could create something of a bottleneck, lowering sulphate and ammonia levels. This is not necessarily a bad thing if you have mutations along the transulfuration pathway (i.e. the CBS enzyme), which would cause taurine levels to rise (with a corresponding decrease in glutathione).I don’t have this problem. Ordinary methylation support is fine in my situation, since this will keep the cycle spinning.
BHMT rs16876512 T CT +/-
BHMT rs6875201 G AG +/-
BHMT-02 rs567754 T CC -/-
BHMT-04 rs617219 C AA -/-
BHMT-08 rs651852 T CT +/-
BHMT R239Q rs3733890 A AG +/-
BHMT (various heterozygous mutations) – enzyme is responsible for converting homocysteine to methionine. It does this by way of a “short cut”, bypassing the normal B12/methylfolate-dependent route.Mine is probably working less optimally, which isn’t a problem if I improve the status of my methylation cycle via the “long route”. However, taking TMG (Betaine) may get this route functioning optimally.
CBS A13637G rs2851391 T CC -/-
CBS A360A rs1801181 A GG -/-
CBS C19150T rs4920037 A GG -/-
CBS C699T rs234706 A GG -/-
CBS N212N rs2298758 A GG -/-
COMT rs6269 G GG +/+
COMT -61 P199P rs769224 A GG -/-
COMT H62H rs4633 T CC -/-
COMT V158M rs4680 A GG -/-
COMT (one homozygous mutation) – This gene helps break down dopamine and norepinephrine. A defect will cause higher dopamine due to slower breakdown and is associated with ADD/ADHD. Defects will make you more susceptible to dopamine fluctuations, therefore mood swings. People without COMT mutations are generally more even tempered.My defect isn’t on the V158M gene, which is the key enzyme for breaking down dopamine. Those with mutations on this gene have to be careful with taking too many methyl donors.COMT must be read along with VDR Taq  — note that my +/+ means I don’t make much dopamine. Taking too many methyl groups when you already have lots floating around (because your mutated gene isn’t using them) can cause mood swings, aggression, etc. This is one reason why some people struggle with mb12. I don’t have this problem because my COMT mutation is balanced by my VDR mutation.
DAO rs2070586 A GG -/-
DAO rs2111902 G GT +/-
DAO rs3741775 C AC +/-
DHFR rs1643649 C TT -/-
FOLR1 rs2071010 A GG -/-
FOLR2 rs651933 A AG +/-
FOLR3 rs7925545 G AA -/-
FOLR3 rs7926875 A CC -/-
FOLR – Folate Receptor genes bind to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate to the interior of cells.
FUT2 rs492602 G GG +/+
FUT2 rs601338 A AA +/+
FUT2 rs602662 A AA +/+
FUT2 gene encodes the fucosyltransferase 2 enzyme which determines “secretor status”. Non-functional enzyme resulting from a nonsense mutation in the FUT2 gene leads to the non-secretor phenotype. It has been shown that non-secretor individuals show significantly reduced bifidobacterial diversity, richness, and abundance. This is significant because intestinal microbiota plays an important role in human health.FUT2 has been called a robust genetic predictor of vitamin B12 levels by Harvard researchers but so many genes are involved in B12 status I can’t make heads or tails of it yet.
G6PD rs1050828 T C
G6PD rs1050829 C T
GAD1 rs3749034 A AA +/+
GAD1 rs2241165 C CC +/+
GAD1 rs769407 C CG +/-
GAD1 rs2058725 C TT -/-
GAD1 rs3791851 C CT +/-
GAD1 rs3791850 A GG -/-
GAD1 rs12185692 A CC -/-
GAD1 rs3791878 T GG -/-
GAD1 rs10432420 A AA +/+
GAD1 rs3828275 T CT +/-
GAD1 rs701492 T CT +/-
GAD1 rs769395 G AG +/-
GAD2 rs1805398 T GG -/-
GAD – these genes encode for glutamic acid decarboxylase which catalyzes the production of GABA.Glutamate is the main excitatory neurotransmitter in the body and is essential for learning and short and long-term memory.  Glutamate is also the precursor to our primary calming neurotransmitter, GABA.  GABA damps the propagation of sounds so that a distinction can be made between the onset of sound and a background noise.Genomic defects, viral illness, and heavy metals will compromise this balance, leading to excess glutamate, insufficient GABA, excitotoxicity, and eventual neuron loss. Aluminum and lead also poisons this enzyme.Low GABA leads to impaired speech, anxiety, aggressive behavior, poor socialization, poor eye contact, nystagmus, and constipation.  Glutamate excess does the same and also wastes glutathione and increases levels of TNF-alpha, an inflammatory mediator that can produce gut inflammation.We can restore glutamate – GABA balance by:

  1. Addressing any CBS up regulation issues to decrease alpha-ketoglutarate production.
  2. Decreasing intake of food precursors of glutamate (includes whey protein, gelatin, soy, peas, tomatoes, parmesan cheese).
  3. Supplementing with GABA
  4. Copper inhibits conversion of glutamate to GABA by glutamate decarboxylase so avoid copper excess, or better stated, an imbalance between copper and zinc.
  5. Calcium is involved in glutamate toxicity, so supplement with magnesium to keep calcium in check.
  6. Remove heavy metals with a chelating agent (toxicity due to mercury is aggravated by glutamate excess – they synergize to damage nerve cells).
  7. Supplementing with Pycnogenol and grape seed extract.
GAMT rs17851582 A GG -/-
GAMT rs55776826 T CC -/-
GIF (TCN3) rs558660 A GG -/-
MAO A R297R rs6323 T T +
MAO A (heterozygous mutation) – Monoamine oxidase A degrades serotonin, dopamine, epineprine, and norepinephrine. This can result in swings in serotonin levels, and therefore mood swings.If you’re affected, you might want to reduce foods containing high levels of tryptophan. However, it is likely that, as methylation status improves, serotonin fluctuations should also improve (based on improved levels of BH4).
MAT1A rs72558181 T CC -/-
MTHFD1 C105T rs1076991 C CT +/-
MTHFD1 G1958A rs2236225 A AA +/+
MTHFD1L rs11754661 A GG -/-
MTHFD1L rs17349743 C TT -/-
MTHFD1L rs6922269 A GG -/-
MTHFD1L rs803422 A GG -/-
MTHFD – This gene encodes a protein that possesses three distinct enzymatic activities related to folate. Recent data shows choline requirements are increased by polymorphisms in the phosphatidylethanolamine N-methyltransferase (PEMT) gene (i.e., 5465G->A; rs7946 and -744G->C; rs12325817) and in the methylenetetrahydrofolate dehydrogenase (MTHFD1) gene (i.e., 1958G->A; rs2236225).Choline is a required nutrient with roles in liver and brain function, lipid metabolism, and fetal development. Deficiency leads to liver disease.
MTHFR 03 P39P rs2066470 A GG -/-
MTHFR A1298C rs1801131 G TT -/-
MTHFR A1572G rs17367504 G AA -/-
MTHFR C677T rs1801133 A AG +/-
MTHFR G1793A (R594Q) rs2274976 T CC -/-
MTHFR rs12121543 A CC -/-
MTHFR rs13306560 T CC -/-
MTHFR rs13306561 G AA -/-
MTHFR rs1476413 T CC -/-
MTHFR rs17037390 A GG -/-
MTHFR rs17037396 T CC -/-
MTHFR rs3737964 T CC -/-
MTHFR rs4846048 G AA -/-
MTHFR rs4846049 T GG -/-
MTHFR (heterozygous mutation) – This enzyme has global effects for immune function, muscle metabolism, neurochemical production and regulation, and detoxification.It is the enzyme most in vogue at the most for analyzing because it’s responsible for converting inactive folate to active folate (i.e. methylfolate) and the +/- defect is common.rs1801133 – since your +/- is less efficient (operating at 65% of normal), your methylfolate levels may be on the low side. It also suggests that you should stay away from folic acid and, perhaps, too much dietary folate.
MTHFS rs6495446 C CC +/+
MTHFS (homozygous mutation) –  MTHFS is the only enzyme known to catalyze a reaction with folinic acid. If you have a deficiency in this enzyme, and you consume folinic acid (found in vegetables), it will build up in your cells (this is from a note Rich wrote to Fred found here).The problem with this is that folinic acid normally acts as a regulator of folate metabolism by inhibiting enzymes in this metabolism. In particular, it inhibits the serine hydroxymethyltransferase (SHMT) enzyme, which normally is the main enzyme that converts tetrahydrofolate to 5,10 methylene tetrahydrofolate, which in turn is the substrate for making methylfolate.So, a deficiency in MTHFS will allow folinic acid to rise inhibiting SHMT, which will lower 5,10 methylene tetrahydrofolate, and thus will also lower production of methylfolate, which is needed by methionine synthase in the methylation cycle.This would suggest that I need very high levels of methyl folate (and magnesium which is a cofactor).
MTR A2756G rs1805087 G AA -/-
MTRR A66G rs1801394 G AG +/-
MTRR H595Y rs10380 T CC -/-
MTRR K350A rs162036 G AA -/-
MTRR R415T rs2287780 T CC -/-
MTRR-11 A664A rs1802059 A AG +/-
MTRR rs10520873 C CT +/-
MTRR rs1532268 T CT +/-
MTRR rs162049 G AA -/-
MTRR rs3776467 G AA -/-
MTRR rs9332 A GG -/-
MTRR (homozygous mutation) – Generates the Methyl-B12 used by MTR to convert 5-Methyl-THF into Methionine. With mutation, Methyl-B12 generation is limited, diminishing MTR’s ability to produce Methionine.  Homocysteine toxicity will occur along with impaired formation of S-Adenosyl Methionine (SAMe) and methylation in general. Suggests inactive B12 supplements wouldn’t work well for me. Supplement also with TMG (trimethylglycine), phosphatidylserine, or phosphatidylcholine.  Avoid dimethylglycine (DMG) which would actually slow down the Homocysteine to Methionine conversion.
NOS1 rs3782206 T CC -/-
NOS2 rs2297518 A GG -/-
NOS2 rs2274894 T TT +/+
NOS2 rs2248814 A AA +/+
NOS3 rs1800783 A TT -/-
NOS3 rs1800779 G AA -/-
NOS3 rs3918188 A AA +/+
NOS3 G10T rs7830 T GG -/-
NOS3 T786C rs2070744 C TT -/-
NOS (some homozygous mutations) – in a process dependent on BH4, NOS converts arginine into nitric oxide and assists in ammonia detoxification. In the absence of BH4, NOS will convert Arginine into peroxynitrite or superoxide, which are both bad free radicals.I may benefit from reducing protein intake, eating Yucca or butter with meals, or supplementing with butyrate or BH4 to keep ammonia levels down. Thankfully, I don’t have a CBS upregulation, which would have an additive effect.
PEMT rs4244593 T GT +/-
PEMT rs4646406 A AT +/-
PEMT rs7946 C TT -/-
PEMT – This gene encodes an enzyme which converts phosphatidylethanolamine to phosphatidylcholine (the most abundant mammalian phospholipid) by sequential methylation in the liver. Mutations may mean I’d benefit from supplementing choline or eating more eggs. “Studies have recently shown that because of common genetic polymorphisms, choline deficiency is a widespread problem. Men, postmenopausal women, and premenopausal women with PEMT SNPs need to increase choline intake in the diet to offset elevated risk of liver dysfunction.”
SHMT1 C1420T rs1979277 A AG +/-
SHMT1 rs9909104 C TT -/-
SHMT2 rs12319666 T GG -/-
SHMT2 rs34095989 A AG +/-
SHMT – Serine hydroxymethyltransferase (SHMT) is an enzyme which plays an important role in cellular one-carbon pathways by catalyzing the reversible, simultaneous conversions of L-serine to glycine (retro-aldol cleavage) and tetrahydrofolate to 5,10-methylenetetrahydrofolate (hydrolysis). This reaction provides the largest part of the one-carbon units available to the cell. SHMT is a member of the PLP or P5P (B6) enzyme class. P5P is needed by both mSHMT and cSHMT at all times to activate this enzyme. Dr. Yasko puts SHMT first of the first priority mutations because it is a dead end pathway. If it’s blocked, it takes your folate and holds it there so you won’t get it converted into folinic or 5MTF. This means it steals this from the rest of the cycle. She also notes, “People with the SHMT and/or ACAT mutations sometimes have a greater tendency to experience gut dysbiosis and imbalanced flora.”
SLC19A1 rs1888530 T CT +/-
SLC19A1 rs3788200 A AG +/-
SLC19A1 – The SLC19A1 gene encodes a transporter involved in folate and thiamine uptake and may play a role in intracellular folate distribution [21].
TCN1 rs526934 G AA -/-
TCN2 C766G rs1801198 G CG +/-
TCN – the “frailty” genes. TCN1 and 2 are both B12-binding and transport proteins but TCN2 is the primary of the two. Both deliver cobalamin to cells.
TYMS rs502396 C CC +/+
TYMS – A nasty cancer gene (the mutation). Thymidylate synthase catalyzes the methylation of deoxyuridylate to deoxythymidylate using 5,10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This function maintains the dTMP (thymidine-5-prime monophosphate) pool critical for DNA replication and repair.
VDR Bsm rs1544410 T TT +/+
VDR – Bsm/Taq mediates an increase in dopamine production in response to Vitamin D (VDR is an abbreviation for Vitamin D Receptor). The (+/+) form is less active, so you tend to be low in dopamine.  Methyl status will be low also, so you will be less sensitive to supplementation with methyl groups.I have (+/+), which read with my normal V158M gene means that I have low vitamin D levels, poor tolerance to toxins and microbes, make less dopamine and need and tolerate more methyl donors.
Gene & Variation rsID # Risk Allele Your Alleles & Results
HLA rs2858331 G AG +/-
HLA DQA1 rs2187668 T CC -/-
Gene & Variation rsID # Risk Allele Your Alleles & Results
CTLA4 rs231775 G AA -/-
FOXE1 rs1867277 A GG -/-
FOXE1 rs7043516 C AA -/-
FOXE1 rs10984009 A GG -/-
Gene & Variation rsID # Risk Allele Your Alleles & Results
BCMO1 rs4889294 C CT +/-
BCMO1 R267S rs12934922 T AT +/-
BCMO1 A379V rs7501331 T CC -/-
Gene & Variation rsID # Risk Allele Your Alleles & Results
ATP5g3 rs185584 G AA -/-
ATP5g3 rs36089250 C TT -/-
ATP5c1 rs2778475 A AG +/-
ATP5c1 rs1244414 T CC -/-
ATP5c1 rs1244422 T CT +/-
ATP5c1 rs12770829 T CT +/-
ATP5c1 rs4655 C CT +/-
COX5A rs8042694 G AG +/-
COX6C rs4626565 C TT -/-
COX6C rs7844439 A CC -/-
COX6C rs4510829 A GG -/-
COX6C rs1135382 A GG -/-
COX6C rs7828241 C AA -/-
COX6C rs12544943 G AA -/-
COX6C rs4518636 C TT -/-
NDUFS3 rs2233354 C TT -/-
NDUFS3 rs4147730 A AG +/-
NDUFS3 rs4147731 A GG -/-
NDUFS7 rs2332496 A AA +/+
NDUFS7 rs7254913 G AA -/-
NDUFS7 rs1142530 T TT +/+
NDUFS7 rs7258846 T TT +/+
NDUFS7 rs11666067 A AA +/+
NDUFS7 rs2074895 A AA +/+
NDUFS7 rs809359 G AA -/-
NDUFS8 rs4147776 C AA -/-
NDUFS8 rs1122731 A GG -/-
NDUFS8 rs999571 A GG -/-
NDUFS8 rs2075626 C TT -/-
NDUFS8 rs3115546 G TT -/-
NDUFS8 rs1104739 C AC +/-
NDUFS8 rs1051806 T CC -/-
UQCRC2 rs6497563 C CT +/-
UQCRC2 rs4850 A GG -/-
UQCRC2 rs11648723 T GG -/-
UQCRC2 rs12922362 A AC +/-
UQCRC2 rs2965803 T CC -/-
Gene & Variation rsID # Risk Allele Your Alleles & Results
4q27 Region rs6822844 T GG -/-
APOE rs429358 C TT -/-
ATG16L1 rs10210302 C CT +/-
GSDMB rs7216389 T CT +/-
HLA-DRB1 rs660895 G AA -/-
IL5 rs2069812 A AG +/-
IL-13 rs20541 A GG -/-
IL4R Q576R rs1801275 G AA -/-
MeFV A744S i4000409 A CC -/-
MeFV E148Q rs3743930 G CC -/-
MeFV F479L i4000403 C GG -/-
MeFV K695R i4000407 C TT -/-
MeFV M680I rs28940580 G CC -/-
MeFV M694I rs28940578 T CC -/-
MeFV M694V i4000406 C TT -/-
MeFV P369S rs11466023 A GG -/-
MeFV R761H i4000410 T CC -/-
STAT4 rs10181656 G CG +/-
TNF -308 rs1800629 A GG -/-
TNF -238 rs361525 A AG +/-
TYR (MeFV) V726A rs28940879 A GG -/-
Gene & Variation rsID # Risk Allele Your Alleles & Results
SULT1A1 rs35728980 G TT -/-
SULT1A1 rs1801030 C TT -/-
SULT1A1 rs1042157 A NO CALL &nbsp
SULT1A1 rs36043491 T CC -/-
SULT1A1 rs60749306 C TT -/-
SULT1A1 rs9282862 C TT -/-
SULT1A1 rs1042008 A GG -/-
SULT1A1 rs2925627 C TT -/-
SULT1A1 rs2925631 C TT -/-
SULT1A1 rs3020800 G AA -/-
SULT1A1 rs4149385 T CC -/-
SULT1A1 rs60701883 A CC -/-
SULT1A1 rs4149381 G TT -/-
SULT1A1 rs8057055 A CC -/-
SULT1A1 rs6498090 A GG -/-
SULT1A1 rs7193599 C AA -/-
SULT1A1 rs7192559 T CC -/-
SULT1A3 rs1059667 A TT -/-
SULT2A1 rs296366 T CC -/-
SULT2A1 rs296365 C GG -/-
SULT2A1 rs11569679 T CC -/-
SULT2A1 rs4149452 T CC -/-
SULT2A1 rs8113396 G AA -/-
SULT2A1 rs2547242 C TT -/-
SULT2A1 rs2910393 T CC -/-
SULT2A1 rs4149449 T CC -/-
SULT2A1 rs2547231 C AA -/-
SULT2A1 rs4149448 G AA -/-
SULT2A1 rs11083907 A GG -/-

Some background information from Genetic Genie:

We have two copies of most of the genes we are born with – one from our mother and one from our father. Genetic Genie uses the SNPs (Single Nucleotide Polymorphisms) generated from your unique DNA sequence to determine if one or both copies of your genes have a mutation at a specific location in a specific gene. If there are no mutations present, your result will be displayed as (-/-). If one gene is mutated, the result will read (+/-). If both copies have a mutation, the result is (+/+). Along with the (+/-) symbols, the colors on the table also denote the type of mutation for visual comprehension. The color red indicates a homozygous (+/+) mutation, the color yellow indicates a (+/-) heterozygous mutation and the color green (-/-) indicates that you don’t carry the specific mutation.

The terms heterozygous and homozygous are used by geneticists to denote whether one or both copies of a gene are mutated. Heterozygous mutations (+/-) may differ from homozygous mutations (+/+) in associated disease risk since a person with a heterozygous mutation will often still have one fully functioning copy of the gene. It is also important to understand that having a gene with a SNP mutation does not mean that the gene is defective or nonfunctioning, only that it is working with an altered efficiency. Sometimes this means that it is working at a decreased level, but it could also mean that it is functioning at a higher than normal efficiency, or that the gene is lacking regulatory mechanisms normally involved in its expression.

Although mutations can occur at any time during our lifetime, it is most likely that we are born with these mutations and will have them throughout our life. These inherited mutations have been passed down to us from previous generations (our parents and grandparents) and may be passed to future generations (our children). This may provide an explanation as to why certain traits or diseases “run in the family”.

Although we cannot change our genetic code, we can change how our genes are expressed. Research has revealed that our gene expression is not determined solely by hereditary factors, but it is also influenced by our diet, nutritional status, toxic load and environmental influences or stressors.

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  • avatar

    Sus September 28, 2015, 7:34 pm

    Oh, so you don’t live here anymore? Darn. OK, thank you – I will definitely look him up & see if he’s learned some new things :)

  • avatar

    Elise September 24, 2015, 8:29 am

    THANK YOU for publishing all this, sharing all this here. I’ve been ill the last 30+ years and have been overwhelmed since getting my 23andme results 2 weeks ago. Although I have made headway in understanding some, this is tough stuff to slog through, esp with compromised brain wattage. Your data here added some new SNPs I didn’t know were issues (GAD1, FU2) but they fill out the puzzle. I too noticed the VDR info on methyl donors was out of whack with what Nutrahacker indicated. Good catch! Peace & health, Eric!

    PS: we must be long lost cousins with all the mutations in common..

    • avatar

      Eric September 27, 2015, 3:59 pm

      Thanks for sharing Elise – wishing you speedy healing!

  • avatar

    Sus September 24, 2015, 4:35 am

    Hi Eric –

    Can I ask who you saw in South Florida? Because I live here, too, and can’t seem to find anyone to help except for a Chiro that just happens to have an affinity for methylation issues, genetic mutations & anatomy. I’m compound hetero for MTHFR, plus have a whole host of other issues. I have 6 mutations of the CYP2D6 gene, so I have to take 3x the amount to get the same therapeutic benefit (& I have EDS, so a lot of pain & the traditional pain medications don’t work well).

    I currently use Livewello, but my Chiro is testing out a new software that takes all of your data & spits out your main genetic issues. So, he did it for myself & my husband, and it is awesome – has saved me so much time & effort (vs. going through & trying to my own reports via SNP sandbox. I love Livewello’s app, but I feel like I needed a “jumpstart”, so this report did it for me). Thanks so much for your website & passing on of knowledge! If I can help you, please let me know – we can trade Dr names. 😉


    • avatar

      Eric September 27, 2015, 3:57 pm

      I saw Dr. Woliner at holistic family medicine – at the time (10 years ago) he knew just enough to be dangerous, very open-minded and flexible but inexperienced too. This was before 23andme obviously. He may have learned a lot since then…

  • avatar

    Jo September 22, 2015, 5:28 am

    ERIC, Just wanted to say hi from Australia!
    This is a particularly excellent article that will help not only myself but others navigating their genetic snps.
    Thankyou so much for all the time and energy you have put into documenting your life’s story. (I have only read snips).
    I’m sure your blog has helped and will continue to help many others…know thyself and it will all be revealed :)

    Sending love and appreciation.
    Jo from AUSTRALIA

    • avatar

      Eric September 23, 2015, 2:17 pm

      Thanks for your kind words Jo!!!

  • avatar

    MatthewGrace September 4, 2015, 8:03 pm

    I love your site Eric. That said, I am flummoxed by all the gene/methylation factors. Where can we find an alternative doctor who can simply interpret these things for us for a fee instead of running through educated guesses on forums? I know it’s nice to have an education, but surely there is someone who actually has hands-on experience with patients that have such mutated genes and can give advice: Take this… Don’t take this… or the closest thing to it.

    I contacted Amy Yasko, but apparently she doesn’t speak to clients, and has a book. While very nice book I’m sure, we are business owners, plumbers, school teachers, secretaries… why on earth should we need invest hundreds of hours in reading fragmented interpretations of genetic information only to potentially get it wrong and take steps back? This is not the way…

    In short… is there someone who we can pay to guide us through this process? Can you list such reputable persons?
    Thank you,

    • avatar

      Eric September 5, 2015, 2:34 pm

      I wish I could help you more there Matt. The ones I have seen are not MDs, like Yasko and specializes in methylation like these:

  • avatar

    Karen Kehr August 26, 2015, 1:08 pm

    My Livewello results do not correlate with Yasko results. how can that be if both are working with the same data? Livewello shows VDR Taq as two minuses, and Yasko as two pluses!

    • avatar

      Eric August 26, 2015, 2:45 pm

      I’ve read that not everyone uses the same conventions to report results – can’t remember the details but this might be one of those examples…

  • avatar

    Martin August 18, 2015, 4:55 am

    Yes I do – l-5-Methylfolate. I was completely free of ADHD for about 2 weeks ( similar to when I had mercury DMPS injection in 2003 ) . I have been taking liposomal Vitamin C , curcumin , methyl B12 . Unfortunately my stress levels are very high ( 4 young children and running a business with 7 staff ) – so my brain “crashed” a bit . I have 2 BHMT mutations so have been taking TMG which seems to help as well. I started taking GABA since , but I wasn’t taking it when I was ADHD free.

    • avatar

      Eric August 19, 2015, 4:49 pm

      wow, 4 kids and a business!! that’s more than a handful… The funny thing is that even a healthy person might have trouble coping with that. I’m in a somewhat similar situation knowingly have two kids.

    • avatar

      Eric August 19, 2015, 4:49 pm

      wow, 4 kids and a business!! that’s more than a handful… The funny thing is that even a healthy person might have trouble coping with that. I’m in a somewhat similar situation although I only have two kids.

  • avatar

    Martin August 17, 2015, 3:25 am

    Well – for me the whole dopamine issue pretty much wrecked my teenage years ( I have lots of folate related SNPS – and about 9 on GAD1 which is GABA related ) . I would have been diagnosed ADHD if it was around then. I would have never thought of myself having low blood pressure except maybe my legs going to sleep when I was kayaking once – and I will faint if I don’t lie down at a fasting blood test. Green tea and serrapeptase are supposed to block bradykinin so I take those sometimes.

    • avatar

      Eric August 17, 2015, 2:12 pm

      So do you supplement folate? Does that help?

  • avatar

    Julia Pace August 14, 2015, 4:57 pm

    A wealth of information. Very much appreciated. All the best to you.

  • avatar

    Martin August 13, 2015, 4:57 pm

    Great stuff. One comment – with ACE mutation , according to Yasko it is a deletion , so I assume the effect of having a deletion of ACE is like having ACE inhibitors and your bradykinin would be high ( and your blood pressure low ) . Also having high bradykinin causes your dopamine receptors to overload and self-inhibit ( read some studies ) . I have double mutation on ACE . I really appreciate you putting all this stuff up.

    • avatar

      Eric August 14, 2015, 3:00 pm

      thanks Martin, my blood pressure used to be normal but got low at some point during my illness… Do you do take any supplements for your Ace mutation?

  • avatar

    Shelley July 12, 2015, 1:11 pm

    Thank you for this! It will really help me better understand my family’s genetics. I only wish that there was a place we could send our raw data and get a personalized report for all the issues there might be with our SNPs. Nutrahacker does an interesting job giving supplement recommendations, but some are contradictory.

  • avatar

    Rae April 10, 2015, 7:50 pm

    So much wonderful information, so many things to still look into.
    Had my first stress related illness and was hospitalized with shingles at age 12, by 18 had enjoyed every test known to man to determine the source of my intestinal problems, high anxiety and general poor health. Have been diagnosed bi-polar (NOT) because of extreme depression, IBS, drug inefficacy, extremely thin, and it goes on.
    Diagnosed with triple positive at 58 in 2012.
    At that time I had the 23andme genetics testing done. Other than the initial reports, had no idea there was such a treasure trove of information I could pull out. Finally stumbled across a person who tried to scam me out of 1,000’s of dollars to read the reports. First I knew there were reports to interpret; this was a year ago. Didn’t have the financial resources to go off insurance for someone like that.
    Your page has helped me more and given me more insight than anything I have been able to find since facing such a life and death diagnosis. Thank you so much. I will seek out one of the practitioners I can find within a few hundred miles of where I live.
    Such a sad commentary that so many people make helping others understand their well being; try to get rich off the process. Here you have helped so much for free, and it’s obviously been a great deal of work. You are a wonderful person. My prayers for your continued health improvements and for your dedication and sharing of all you have discovered.

    • avatar

      Eric April 13, 2015, 2:11 pm

      so sorry to hear about your troubles Rae! thank you too for such kind words. definitely read up about ozone therapy, hydrogen peroxide therapy and iodine. I’ve read many accounts of miraculous cures with those therapies…

    • avatar

      A Stern May 23, 2015, 4:46 pm

      Have you seen this practitioner?

      Dr. Miller interprets and prescribes for these concerns.

  • avatar

    Kate April 9, 2015, 3:36 am

    Which website did you use for the Elevated Risk table?

    • avatar

      Eric April 9, 2015, 2:29 pm

      I think the elevated risk came from 123andme before the FDA started meddling in their affairs…

  • avatar

    Changexpert April 4, 2015, 1:00 am


    Thanks for a great post. I was wondering where you got the information for different SNP’s. For instance, in regards to rs1056836, you quoted, “rs1056836 increases susceptibility to lung and breast cancer, blocks testosterone and inhibits mitochondrial function,” but I could not find any information on testosterone and mitochondrial function. Could you share the source please? Thank you.

    • avatar

      Eric April 5, 2015, 3:16 pm

      Sorry I picked up those bits and pieces all over the place! didn’t keep records…

  • avatar

    Katrina March 27, 2015, 5:53 pm

    Hi Eric,
    I also had the test done with 23andme, but only got the methylation profile from genetic genie. It seems you obtained a lot more test result info than I did, so how do I obtain all the other info? Is it in the list of analyzers that you included? Thanks for posting this info. It’s complicated and I’ve been working on getting wellness from CFS and major food sensitivities for a long time. Katrina

    • avatar

      Eric March 30, 2015, 4:30 pm

      The results you see came from Sterling’s app, but the text came from my research… I do like Livewello a lot but still wouldn’t call it very user-friendly text wise.

  • avatar

    Elizabeth March 20, 2015, 3:55 am

    Yes Eric, I think the charcoal does help reduce my headaches. My headaches are due to ammonia I think in part from animal protein…….(though my migraines I think are a build up of tyramine and I certainly can’t handle sulphites (sulphur foods and epsom salts baths etc seem fine) or nitrates…………. where does histamine fit into this I wonder – I have had lots of problems with salycilate foods – hives etc…… But re the headaches Interesting when I stopped the MSM I also stopped the 7000iu of vitamin D I’ve been taking for years……….and then the headaches stopped………so was it the MSM or was it the vitamin D I wonder!!!??? But I don’t have a problem with sunshine as you do………….what a messy situation my biochemistry is……… body is a laboratory for experiments and its hard on my body and phyche doing too much of that. But when results happen its wonderful!!

    • avatar

      Eric March 20, 2015, 3:01 pm

      Elizabeth, it’s somewhat common for people to get migraines from vitamin D and I think it could be from the immune system effect. The fact that charcoal reduces your headaches could mean that you have bio toxin issues like me. I switched to ozone from hydrogen peroxide a couple weeks ago and the ozone is doing the same exact thing. I’m experiencing the same intense detox…

    • avatar

      Christine April 7, 2015, 5:08 am

      I have been diving into genetic testing recently and the ammonia build up could be from a CBS mutation. Too much animal protein will create an ammonia problem in people with this mutation. Carnitine can negate ammonia. CBS also can create a issue with too many sulfate metabolites. MSM is a sulfur product. Also, vitamin D will pull calcium into the body. If you have a magnesium deficiency, your headaches might be related to the imbalance between calcium and magnesium.
      Just some of my quick thoughts.

  • avatar

    Lynne March 19, 2015, 1:31 am

    Thank you for writing this!!!!! I have been so ill for over 15 years. I will be 67 on Friday and have a lot of life still to live (a son in college and a grown son, I’m married to a professional musician and am an inventor). But I am not well enough to enjoy any of this. I have just discovered I have several mutations, have an appointment with a genetics physician in 2 months and am researching like crazy in the meantime to understand all of it.

    One question if anyone has any info: what role does a blood transfusion play in acquiring conditions/illness? Many of the issues I struggle with developed after my transfusion in 1987 during emergency surgery. What happens to the DNA received in the transfusion? Could it create an autoimmune condition? Any thoughts would be appreciated. I send you healing energy and the will to continue your healing journey. You are giving many people hope for a brighter and healthier future.

    • avatar

      Eric March 20, 2015, 3:09 pm

      the blood transfusion question is really interesting Lynne, my wife also has immune system issues and also received quite a bit of emergency blood in a transfusion when our first child was born… I don’t know what happens to the DNA received. Let me know if you find out anything. Thanks for your kind words!

  • avatar

    Elizabeth March 11, 2015, 11:41 pm

    Hi Eric, you answered, how cool.
    The headaches are directly behind both eyes. I’m taking a lot of supps so thought for a long time it was something else…maybe betaine or bentonite clay or intolerance to tyramine/amines (which I have). I’ve had migraines my whole adult life but they were much better for awhile after getting going with methylation and other things but then the migraines and these headaches started returning….and on stopping the MSM the headaches stopped. I started again for a few days but the liver area feels pretty heavy and I’m developing spider veins around the external area where my liver is – it (the liver) is working too hard.
    MSM gets such good press but some people can’t tolerate it…….its good to include some molybdenum evidently and take it with vitamin C.
    Reading through some of your material I wonder whether you’ve ever looked into the Low Oxalate Diet – that has helped me a lot and I imagine with the diets you’ve been on you may have an oxalate load and potentially in endogenous oxalate production…..but you may not. Also from what I understand regular B2 is significant in a lot of the mutations I have and you have also.
    Yes really undecided about MSM – in all my investigations there’s been no indication of a sulphate problem. Sulphites though definitely, same with nitrates.

    • avatar

      Eric March 12, 2015, 2:56 am

      hmmm, I’m reading that MSM has antifungal and antibacterial properties. Would be interesting to try a retention enema or colonic or taking charcoal to see if that diminishes your headache. if so, the source of your headaches might be the same as mine… seems that I’m already on a low oxalate diet with beans being the one exception.

  • avatar

    Elizabeth March 11, 2015, 10:48 pm

    Hi Eric
    I went through a lot of your material yesterday. I have a LOT of genetic mutations that are similar to yours. I’ve been working a lot on my own researching and in a process of supplements and protocols that is trial and error. You information is so useful to me………so good to find someone out there who understands the territory. The supplement I have a big question mark around at present is MSM. Its good for relief of muscular and nerve pain but I’m getting headaches and a heavy feeling in the liver regions. Do you have any opinions on MSM. There’s so much good press out there for it but some not so good press is starting to show up as well.
    Best wishes and many thanks for all you’ve posted here.

    • avatar

      Eric March 11, 2015, 11:22 pm

      Thanks Elizabeth, I haven’t researched MSM yet. I’m currently reading the DMSO book and have formed a very favorable impression. Since MSM is a cousin of DMSO I guess I’m predisposed to have a favorable opinion. What type of headache is it? I found that lots of things that are good for me cause detox which always brings a frontal headache at first… how do you react to other thiols/sulfur containing supplements or foods?

  • avatar

    Evgeni March 11, 2015, 7:55 pm

    Eric did you made some conclusive decisions after you digested all this genetic information ? I mean did it helped you improve your health ? Where I live it’s expensive to do this test, so I am wondering if it would help. Thanks !

    • avatar

      Eric March 11, 2015, 10:34 pm

      The answer is yes absolutely – I consider the genetic information priceless. That said, I’m still not well yet and have a long way to go. But going in the right direction is still everything!

    • avatar

      Barbara March 12, 2015, 1:19 am

      You can get the testing for $99 on and go to livewello and the other sites Eric lists above to have them analyzed better

  • avatar

    Elizabeth March 11, 2015, 4:38 am

    Hi Eric, I have so many similar snps to you…..I’d be really interested to know what supplements you use. I have quite a list already and am happy to post those but very interested to know what you use.

  • avatar

    Barbara March 8, 2015, 11:00 pm

    This is a great site. Thank you for all of the information. Does Brad freelance? Or does anyone know a consultant in this area? Thanks!

    • avatar

      Eric March 11, 2015, 11:10 pm

      Sorry, I don’t know the answer to that Barbara but a good place to start would be to post on Phoenix Rising asking for help…

      • avatar

        Barbara March 12, 2015, 1:20 am

        Thanks Eric.

  • avatar

    Brooke March 6, 2015, 3:00 pm

    This is so informative. I am recovering from fluoroquinolone toxicity syndrome and other issues. Doctors haven’t helped but learning about my gene mutations and snps has helped. I get info here and there but nothing like you have been able to uncover. Where did you get all of this information? Do you recommend certain sites or programs? I have done the following: Livewello, Nutrahacker, MTHFR Support, Genetic Genie, and Prometheus. It is still hard to figure out if I am on the right track.

    • avatar

      Eric March 6, 2015, 3:52 pm

      hi Brooke, this information came from here and there – online research and from talking to someone else on the phone who’d been through this process… Sorry I don’t have any good leads for you! I know how difficult it is…

  • avatar

    Helen February 21, 2015, 9:01 pm

    Dave Asprey of Bulletproof Exec has just finished a documentary called “Moldy”. It should cover just about all current research on mold and mycotoxins.

  • avatar

    Sharol February 21, 2015, 6:05 pm

    Something else to rule out: 25% of people are genetically susceptible to mold. They are diagnosed as having chronic fatigue. The mold/bacterial combo in buildings effects mitochondrial activity/energy, it causes crazy aches and pains, fibromyalgia, brain fog, crazy inflammation, effects your adrenals and thyroid, appears related to some autoimmune diseases etc. I think everyone with chronic fatigue should rule out living in a water-damged building (sometimes hard to tell). Additionally, that 25% has trouble removing mycotoxins from their body and even if they lived in a water-damaged building and moved they may still have mycotoxins in their body creating a chronic inflammatory state until they remove them.

    • avatar

      Eric February 21, 2015, 6:21 pm

      Right on, Sharol – I know I have mold allergy and I know I have molds living in my digestive system, I’ve got the pictures.

      I’ve been unable to find any information about mold growing in the body online. It seems incredible to me, but there really isn’t much.

      Search Google for “Can mold grow in your intestines?” and you will end up reading about Candida which I don’t have. There are probably thousands or millions of species of fungi and what’s to stop them from living inside you, creating your own mycotoxin factory? I know what is supposed to stop them – healthy gut bacteria and a healthy SOD2 system, and I must be lacking both.

      • avatar

        Sharol February 28, 2015, 6:36 pm

        The problem is mycotoxins. There are also other toxic products that are put out in water damaged buildings, but mycotoxins is a big part of it. People who are genetically susceptible can not get they mycotoxins out of their body. I have been posting things on my website to help folks as I went though this myself in the past. It is kind of complicated as it involves making sure you are out of a water-damaged building first and foremost or treatment won’t work. I lived in two water-damaged homes in my distant past and they haunted me for years until I figured out my issue. Mycotoxins can also cause mitochondrial damage. They often effect endocrine organs such as adrenals, and thyroid. There are so many things that can be effected, it is like a house of cards falling down at its worst. I will give you a web page on my website that has quite a bit of data. I apologize for everything not being up there yet and for it being technical. I have many things in my life that keep me from spending the time needed to sit down and focus only on finishing the site data. Although, I am a practitioner myself, please do not simply follow what is listed there. It really is for education only. Eveyrone is different. I would read what might apply to you and then find a practitioner you can work with who will identify if you do have a mold susceptibility. They should also see if you have other genetic issues that might effect your biochemical network, and can then help you adjust your environment, diet and suggest supplements. There is one item that is a drug that I found invaluable to remove mycotoxins called cholestyramine. I and others I have worked with have tried clay, charcoal, water soluble fibers etc. but none work well compared to choestryramine. We are still looking for other methods but so far choelstyramine has been very helpful. I have 3 pages on cholestyramine on the website to help folks understand it. Again, I apologize for my messy website. I am in the process of looking for some help to make a new website that will be easier for folks to use and easier for me to get data into. Go to and click on mold biotoxins and biotransformational pathways. That will take you to the page with links that might help a little more. I welcome feedback on how to make the new website better. I will try to get time next week to go in and finish adding things to the treatment/supplement page as I realize this is a page that is helpful to many folks for ideas to take to their Docs.

        • avatar

          Eric March 1, 2015, 4:57 pm

          Fortunately I live in a very clean dry environment and have for the past eight years. We lost just about everything we had when we moved out of Florida to get away from the mold! don’t think I can take a chance on cholestyramine because my cholesterol has been too low for a very long time probably due to mercury toxicity. so for now, I’m relying on charcoal…

  • avatar

    Janet Kirby MD February 20, 2015, 3:10 am

    This site is EXTREMELY informative and helpful. Thank you so very much.

    • avatar

      Eric February 21, 2015, 4:31 pm

      Thanks for stopping by and commenting Janet, glad you found it helpful!

  • avatar

    Sandy February 18, 2015, 4:29 pm

    HELP! I am so overwhelmed with info and lack of what in the world it all means! I’ve performed the 23 and me, received results, uploaded to Livewello (can’t figure it out at all), then up loaded MTHFRsupport (still ???). My functional meds doc performed genetic testing, I know I’m MTHFR but not clear on what degree. I know I have a risk for heart disease, and Alzheimer’s, and apparently I was destined for the Thyca I had 3 years ago.
    Doc has thrown supplements at me to try and I keep have adverse reactions to them.
    Where do I go from here for information to identify what these SNPS mean and what if anything I can do to combat them. I’m not a scientific grasping person, this is all so overwhelming I just wanna cry.
    Can you please point me to a “dumbed down” version of this info so I can figure out the supplements I need?
    Appreciate all your efforts to help

    • avatar

      Eric February 21, 2015, 4:24 pm

      Sandy, I don’t know of any real basic version of the genetic stuff. It is difficult to say the least. What kind of doctor are you seeing? Which supplements did you have adverse reactions to? Many people have to titrate up methylation supplements from very very low doses…

  • avatar

    Ann January 15, 2015, 3:18 am

    Wow! There is so much info with what you used – I used Livewello and that was overwhelming enough. I was curious about the VDR- I have the same result there- Is there anything specifically you’ve done for this? Add K2, magnesium? Not sure what else I can do to help and you’ve been at it longer so thought I’d ask:)

    • avatar

      Eric January 15, 2015, 4:08 pm

      hi Ann, I do take a lot of magnesium and also took K2 for a long time. I recently dropped the K2 as I’m trying to cut back on all my supplements and because taking $700 worth of supplements a month did not really do the trick…

  • avatar

    Ingrid November 21, 2014, 7:17 pm

    Thanks you so much for all the investigating you have been doing to help people decipher all the raw data from “23 and me ” and a like companies . Awesome you really made my day today a lot easier!!!! :) Knowledge is power.
    Thanks Ingrid

    • avatar

      Eric November 21, 2014, 8:27 pm

      my pleasure Ingrid, thanks for writing!

      • avatar

        sal December 13, 2014, 2:44 pm

        Hi Eric, Thanks for making your research available to us. There is a mystery I have been working on for a while and I think your explanations of snp’s above may have given me a few more clues. About a year ago I had a methylation test done by Vitamin Diagnostics. The results were depressing and odd. The depressing part was that I have too much glutathione in the wrong form and not enough in the right but the odd thing was my folinic acid was extremely low. In fact the doctor there wanted to my get to about 30 mg to correct which scared the hell out of me. I think I got to 5 mg and then backed down. But recently I have been feeling odd again like there is a ceiling I can’t break through health wise. I checked some of my supplements I take for tendonitis and neck and shoulder stiffness and they have methy b’s and MSM). I know you can’t answer this question from a metabolic perspective but can you tell me if my logic is sound? My snp’s mirror yours in the range of about 85-90%. The relevant snp’s I think, are:

        MTHFR ++
        MTHFS +-
        COMT ++
        COMT 158 VM++
        SHMT 1 C1420T +-
        SHMT +-
        SHMT2 —
        SHMT2 —
        VDR BSM ++
        BHMT —
        BHMT 02 ++
        BHMT 04 +-
        BMT 08 ++
        BHMT R239Q —

        So, if I was taking a lot of methy folate, b-12 or methyl donors in say MSM (the first time this happened I was trying to following Ben Lynch’s protocol levels), would that suck up my folinic acid, which is poorly produced allowing the SHMT to go overboard and process the all the methyl donors? So, that even if I have MTHFS I still need to replenish the folinic acid somehow. I know you are not an expert as this, I am just trying to follow the logic as I see it. If there are other snp’s impacted or am I on the wrong track logically? BTW, I did pay $$$ an expert to answer this question she didn’t have an answer either other than go slowly on the folinic acid and never take SAMe. I got a lot of great information other wise but not this answer. I guess I am an over methylator. Any help is greatly appreciated.

        BTW, another site you may be interested in is run by William Walsh, Ph.D. called Alternative Mental Health. I believe he also has a book.

        Thanks, again.


        PS I have seen many commenters ask why their results don’t have the same snp’s as yours. 23andme changed their algorithm somewhere at the end of 2013. I had my results done in late October my husbands in December 2013. Both the results were run thru sterling’s program and he has many fewer snp’s are his report than mine. Apparently, it is the fallout of the FDA scrutinizing 23andme’s health claims.

        • avatar

          Eric December 14, 2014, 6:36 pm

          Hi Sal, thanks for that bit about the changes at 23andme. I wish I could give you a really smart answer about the SNPs, but honestly it’s way over my cognitively impaired head. I looked at all this information a couple of times and tried to pull out some basic supplements but after a year and a half of methylation support I realized, while it’s important, it’s not going to cure me.

          Why not? I can’t help but think about how comparatively healthy I was at age 15. I still had all of the same SNPs, so what changed? Well, I believe my liver filled up with toxins, stopped producing enough bile and possibly became fatty and maybe my kidneys are holding their share of toxins as well. And very certainly my colon has a quarter inch thick coating of gray rubbery sludge on it which is very likely filled with toxic bacteria. This is a long way of saying that, I’m going after the low hanging fruit because I think I could live a very happy life if I could recover the level of health I had at age 15… And when my brain starts working again, maybe I will study up on the SNPs some more!

          warm regards,

  • avatar

    Jann from the Gesundheitsfundament October 26, 2014, 2:30 pm

    I found out, that I’m ACE Del16 homozygote and i think that I’m dealing with a low potassium issue. Thx for your Links how to block ACE! I’m going to test that out!Thumbs up!!!

    • avatar

      Eric October 26, 2014, 2:58 pm

      Good luck:)

  • avatar

    Jann from the Gesundheitsfundament October 24, 2014, 5:32 pm

    Hey Eric,

    have you ever experienced I’ve uploaded my raw data there and got back a detailed sugestion plan of micronutrients. Very nice tool!

    • avatar

      Eric October 24, 2014, 5:57 pm

      have not seen it Jann, but that sounds very interesting and useful!

      • avatar

        Rebecca October 30, 2014, 5:35 am

        I have used this as well, it is very good. I think I paid about 45.00 for it but I believe you can run your raw data again and again to see if new information is added about SNP’s. Honestly some of these nutrients I didn’t even know existed and that they could be a problem. No to mention it cleared up a lot of my questions about why my body was one way or another.

  • avatar

    Helen October 21, 2014, 11:00 pm

    I just discovered that you have to check and make sure that each gene is reported correctly (in genegenie, so far). The rs1135840 SNP is a wild type, GG is normal, but genegenie reports it as homozygous. Interesting!! Thanks so much, all, for helping to sort through 23andMe data.

  • avatar

    Noel October 1, 2014, 1:48 pm

    Thats a great write up. I wonder if you checked all these SNPs one by one or there is any application that you can feed raw 23andMe results to get such output? I have used GeneticGenie and Nutrahacker, but none of them go this deep.
    Thanks in advance.

    • avatar

      Eric October 2, 2014, 12:09 am

      one by one:)

      • avatar

        Rebecca Rinker October 2, 2014, 1:11 am

        I am about to do the same thing. Otherwise making the connections are too confusing. :)

  • avatar

    Terry September 21, 2014, 7:48 pm

    Thanks for such a great blog! Very helpful.

    I’m wondering if you’ve come across any ways to treat SOD2 polymorphisms. I have them, too . . .


    • avatar

      Eric September 22, 2014, 2:48 pm

      i haven’t looked for any ways to treat SOD2 – I’m always trying to address the one issue I think is the possible source of everything else – the logjam – and I think that’s my liver now…

      • avatar

        Simon September 28, 2014, 10:21 am

        Your 23andMe results are way more extensive than mine! How comes? Did you have the old report?

        • avatar

          Eric September 29, 2014, 3:24 pm

          Mine is old but most of the interesting information comes from the third-party analytics.

          • avatar

            Simon October 2, 2014, 5:07 am

            Hi Eric

            So does one need a more extensive interpretation of their 23andme results than what genetic genie gives you? I got nowhere near as many snp results as you have above!

            • avatar

              Amanda October 30, 2014, 2:41 am

              I did livewello and genetic genie and still didnt get this much…what else did you use??!?

              • avatar

                Eric October 30, 2014, 2:42 am

                I used sterling’s app but then I also did my own research for the text…

      • avatar

        Jane February 19, 2015, 5:59 pm

        My daughter also has SOD2 (rs2758331) ++, SOD2A16V(rs4880) ++, SOD2 (rs2758331) ++. Also many other mutations. Is it wise to take a SOD2 supplement? Or do you need to consider other mutations as well first? She also has 8 ++ mutations in the FUT2, GAD1. Any insight? She has been worn out most of her life (24).

      • avatar

        Paula February 28, 2015, 2:47 pm

        Hi. It’s my liver also with GAD1. What are you doing?

        • avatar

          Eric February 28, 2015, 4:56 pm

          hi Paula, I looked for connections between GAD1 and the liver and didn’t find much… What are your issues?

    • avatar

      Belinda December 12, 2014, 1:11 pm

      Ben lynch has a supplement called sod at seeking advised to take with liposomal glutathione start slow and possibly twice a week then up if your ok I have +/+ cbs and have huge sulpher issues which glutathione is bit can handle twice a week for now. Plus supplement your electrolites mag and K helps your cells with the detox.

  • avatar

    Rebecca Rinker September 8, 2014, 3:16 pm

    I’m just starting this journey and find this so helpful. I have to say I am so confused by the enormity of this. Is the only way to make sense of this information from Genetic Genie, Sterling’s App, Livewello, and Nutrihacker to go mutation by mutation and chart it out? Does anyone have a program or consult that can do it this for me. Honestly, I don’t trust myself to get it right. I started with folinic acid and felt terrible. Finally figured it out with the info from this site that it wasn’t a good thing for me, MTHRS++ MTHFD1L++ MTHFS++ among others. Any suggestions?

    • avatar

      Eric September 12, 2014, 2:13 am

      I don’t know any shortcuts, sorry Rebecca! It does sound like you’re on the right track:)

    • avatar

      Eric September 12, 2014, 2:14 am

      well, you could always pay a consultant to help you over the phone.. I don’t know who but I know some people offer the service.

  • avatar

    Danielle June 16, 2014, 8:18 pm

    I do work for Dr. Amy Yasko and would like people to know about a new site , its called
    You can can take your data from any lab and put them in to get Dr. Amy’s Methylation Analysis.
    Other documents are there for people to and use. Its a great tool.
    Have a great day.

    • avatar

      Romily June 26, 2014, 2:51 am

      Danielle, I was excited to learn about the site but seriously dismayed when, because it does not account for VDR Bsm at all, it gave me advice that was very wrong for me (said I needed to avoid methyl groups when I NEED them and that I should supplement with Vitamin D when I’m at toxic levels for Active D 1,25 due to the VDR Bsm defect). I hope this defect is added at some point in the future.

  • avatar

    Romily June 14, 2014, 11:53 am

    Aha! You did get this. Awesome! FWIW, I too am VDR Bsm ++ and learned something interesting this past month. It means we’re VERY good at converting storage D (D 25 which is what Vitamin D labs typically measure) to active D (D 1,25 which they typically won’t bother measuring). This means that, for us, particularly if we supplement with Vitamin D, we need to get labs that show BOTH levels to make sure NEITHER are too high. I just had mine done and, while my storage form was in the 50s, my active form was above safe levels – over 100! Given that my doctor has been pushing Vitamin D heavily, to the point where my storage form was in the 90s at one point, if the ‘double’ ratio is a standard thing for me, I’ve probably been at toxic levels for active D for a few years now!

    Thank you so much for sharing your journey! :)

    • avatar

      Eric June 16, 2014, 9:37 pm

      just got my blood test results and my D 25 is at 17 – a new low for me. Going to start supplementing again and going outside without covering up… Although I’m nervous because a three-day migraine is like a small bomb in my life!

  • avatar

    Leon May 19, 2014, 4:22 pm

    Hi Eric

    I wanted to ask you something. How much of your problems do you think can be related to the 3 FUT2 mutations?

    You say you dont use among other things alcohol and caffein, can the intolerance to those be sourced back to the FUT2 genes?

    Im glad i purchased the sterling app cause I did not see the whole picture before with the other reports.

    • avatar

      Eric May 25, 2014, 3:10 pm

      hi Leon, I really wish I could give you an intelligent answer but I just have no idea. Glad you also found the Sterling app to be valuable :-)

      be well

    • avatar

      KC September 20, 2014, 3:24 am

      Leon, when you say other reports, are you referring to free ones, or to Live Welo? I’ve been wanting to do something for further interpretation. I’m clueless at how to find more info and understand the 23 and me data. I’ve wondered if or Live Welo would be a better route to try. Or if it’s worth spending a little more for more analysis.


  • avatar

    Jessie April 30, 2014, 10:21 pm

    Thanks for posting all of this, very helpful. I am wondering if you put together the assessment “Elevated Risk” in the top center of your post or did I miss something when I got my report from MTHFR?

    • avatar

      Eric May 7, 2014, 12:23 am

      I think we ordered our reports from different places Jessie…

  • avatar

    madrona February 17, 2014, 6:35 am

    Did you get all of the above genetic info via Genetic Genie?? I just ran my 23andme data and didn’t get nearly what you got. I wonder if it’s because 23andme cut down on the number of snps they are looking at. 

    • avatar

      Eric February 17, 2014, 3:19 pm

      It came from Sterling’s App…

      • avatar

        Marie April 6, 2014, 3:54 pm

        Hi Eric,
        This post was really great, I didn’t know a lot of these SNPs until I came across your site! Did the explanations for the SNPs come with Sterlings App? From your site, I learned I have mutations in MTHFS and MTHD but there is not a lot of information that I can find on the “lesser known” SNPs. 

        • avatar

          Eric April 7, 2014, 7:36 pm

          I don’t think those explanations came with sterling’s app – they were pieced together from all over the place… Glad you found it helpful!

  • avatar

    Linda February 6, 2014, 9:48 pm

    Been at this awhile (2004). Got kicked out of Yasko’s forum on second post back in 2005 or 2006. So- have been out in, OMIM, pubmed, etc. ever since with good results.

    Yes in fact, our small group has collectively verified that there is a lovely real life model of impaired methylation and it’s role in chronic disease. Optimize methylation and hurray- return to health in so many ways.  In our experience, yes, it is TRICKY!—and must be individualized–and sometimes using food is less problematic than supplements.. But details on all that to follow (hopefully sometime in the next few years!)

    My question:  I’m going crazy.  I wanted to verify a few assumptions in the Genetic Genie reports (God Bless her!) In doing so, I see that so many genetic variations presented as “mutations” by Dr Yasko can also be very common genetic “differences” for lack of a better word. For example MAO A.   see   The distribution in various populations is in the graph at the bottom right corner.    I was a bit surprised  to see that in many ethnic groups, Yasko’s “MAO A (+,+)” is the predominant allele. and well past 80% in a few of the populations. 

    That was a bit of an eye opener for me.   On average, more than 1/2 of the population is walking around with this ‘mutation.’  Most Yasko followers will assume mutation = problem.  I wonder- is that valid?  I can completely buy that variations in MTHFR, MTRR etc matter more now than they did in previous generations (back then we ate real, nutritious , seasonal, vegetables and didn’t fortify our foods with fake folic acid etc)  

    However, after poking around in a few different places,  I just want to verify that what we have all been taught are “mutations” are actually significant enough to need intervention!

    Top on my list today is SOD2 A16V rs4880. I’m confused:  Genetic Genie lists  GG as  +,+ mutations.  Clicking through I can verify A,G are alleles. however most articles and  talk about CC, CT, TT and their impact on various disease states- with the highest risk listed as C,C. (ClinVar bottom right of page)  

    My question:  is it safe to assume G,G listed as a +,+ mutation is synonymous with C,C discussed as a risk factor in various articles?  Does any of this matter??  I guess my point, is that- in real life, yes optimizing methylation matters to overall health, but I don’t want to blindly assume everything out there matches real life.  I like multiple sources.  Thank you- any and all- who can help answer my questions.

    Blessings, Linda
    PS If you haven’t seen this- have a look. Type in any gene and you’ll have a field day with verified disease associations and chemical interactions (ways to “speed up” or “slow down” various functions)

    • avatar

      Eric February 6, 2014, 10:04 pm

      You make an excellent point Linda and my interpretation is that these genetic ‘differences’ only matter if they happen in a certain combination and you happen to be exposed to something that your genetic vulnerabilities can’t handle. I think that’s what happened to us. As for your specific questions, sorry they are still over my head. Maybe after another year of chelation and methylation protocol I’ll be sharper, lol. Be well!

      • avatar

        f nord May 28, 2014, 9:21 pm

        It could be that since the basic building blocks of DNA, adenine (A), thymine (T), cytosine (C) and guanine (G) bond together only in specific pairs of A with T and C with G, there might be some sort of nomenclature alternative that instead of “reading” one side of the pair, reads the other. In that case, C and G would amount to the same structure, as would A and T.

        For a discussion that’s not too overly technical to understand, check out the wikipedia entry at DNA.

    • avatar

      Sharol February 21, 2015, 6:03 pm

      Hello Linda,
      It is assumed by many that the minor allele is the one that is problematic, however this is not necessarily borne out by research in all cases. I have been reading through research articles on an almost daily basis for a long time and what I find is that often times the minor allele is the one that causes trouble, but not always. Sometimes it can be helpful. Often times it is a matter of how a variety of mutations/variations work together that creates an issue or provides some superb healthy aspect (It can go both ways.) It is useful to look at multiple mutations within a particular enzyme system for example as well as enzyme systems that are very dependent on each other. (Ultimately all systems are dependent on each other, but it is best to look at those that feed into each other in an intimate manner as this is where you will find the most causal relationships that matter.

  • avatar

    Brad November 24, 2013, 12:35 pm

    Great job on the site. I just wanted to comment that IMO it would be more accurate to say that rs1135840 is involved in the metabolism of approximately 25% of all medications including most psych meds including antipsychotics and antidepressants.

    • avatar

      Eric November 24, 2013, 4:39 pm

      Thanks Brad! I just updated it:)

      • avatar

        Luna February 26, 2014, 2:54 am

        Okay, this is the one I that brought me to this site. Does someone with a homozygous variation there OVERmetabolize or UNDERmetabolize these drugs? 
        Yes, TOTAL newbie here. :)

  • avatar

    Eric November 19, 2013, 10:28 pm

    I’ve learned a lot since first posting about my genetics and have been adding the research underneath the related results above. 23andme just finished my ancestry results and amazingly they show my mother’s maiden name as the top relative surname based on my DNA!

  • avatar

    Mary November 15, 2013, 11:46 am

    Really rooting for you to reach optimal health Eric!  

    • avatar

      Eric November 15, 2013, 5:43 pm

      thanks Mary 😀

  • avatar

    Leon November 14, 2013, 1:02 pm

    Like you, they were actually pretty good! I’d go as far as to say that, were I to have been born 50 years earlier, I would be a bastion of good health. The toxic environment we now live in has put strain on those with methylation dysfunction, when it would have likely caused little trouble some years ago.


    Age-related Macular Degeneration




    Colorectal Cancer




    Type 1 Diabetes




    Chronic Kidney Disease




    Restless Legs Syndrome




    Celiac Disease




    • avatar

      Eric November 14, 2013, 10:32 pm

      Congratulations Leon, we all need a little bit of luck now and then!

  • avatar

    Leon November 13, 2013, 5:07 pm

    The results are quite interesting; they mainly suggest I need to be careful with methyl donors (COMT +/+ and VDR Taq +/-). I am slow at regenerating methyl b12 from methyl groups and b12 (MTRR), which, combined with my intolerance for methyl groups, is going to make treatment tricky. Whilst I would want to overcome this with active b12, I have to respect that I can easily OD on methyl groups. This is problematic given that inactive b12 is probably going to sit around doing nothing if I take it. So, I suspect I will try a little of both, and add some adb12 in there.
    The complete genetic genie results were:

    Gene & Variation




    COMT V158M




    COMT H62H




    COMT P199P




    VDR Bsm




    VDR Taq




    MAO A R297R








    MTHFR C677T




    MTHFR 03 P39P




    MTHFR A1298C




    MTR A2756G




    MTRR A66G




    MTRR H595Y




    MTRR K350A




    MTRR R415T




    MTRR A664A




























    CBS C699T




    CBS A360A




    CBS N212N




    SHMT1 C1420T





    • avatar

      Eric November 13, 2013, 5:13 pm

      Sorry to hear about your Catch-22! Even without that problem, I have found increasing methylation a rocky process… what about the other standard 23andme reports? how did you fare with those?

      I’ll be filling and more info on this page over the next month or so, some interesting things from Brad and areas to research, but it will take time.

  • avatar

    Leon November 13, 2013, 1:29 pm

    Incidentally, I’ve just this morning received my own results. I used geneticgenie, org. This is free, though they do ask for a donation, if possible. I notice that they provide you with the key SNPs, which means it isn’t as comprehensive as the one you’ve received. However, with your results they do provide an overview of what each SNP means, taken from the work of Ben Lynch and Amy Yasko. This section also provides treatment tips. I think this would be a good primer, if you’re interested.

    • avatar

      Eric November 13, 2013, 4:08 pm

      Thanks Leon, I just happened to run my data through genetic genie yesterday and included some of the explanation text on this page below the report. Notice that I incorporated your notes into the report section. Going to do that with more info that I have that came from Brad too… how do your results look?

  • avatar

    Expat Viking November 12, 2013, 8:57 pm

    WOW indeed!
    This whole activity really feels like russian dolls: once you think that you have somewhat figured things out, another doll opens up and you realise that you know nothing….
    Anyway, very, very interesting info from Leon but it feels like it would take at least a month to get a handle on it.
    It will be very interesting to follow you Eric when you apply your considerable systematic energy to this.

    • avatar

      Eric November 12, 2013, 9:15 pm

      Yep, Russian dolls and onion peeling for sure! I’m pretty surprised at how inaccessible the genetic info is right now… The tools I’ve seen so far seem pretty crude and online information geared towards scientific types. Pretty amazing, though, what $99 can get you today!

      • avatar

        Nancy January 15, 2015, 3:55 pm

        Hi Eric,
        Saw your comment about the frustrating nature of genetics reporting tools and we wanted to reach out to you:
        We are working hard to make sure we democratize information about genetics so users feel empowered when they have this info about themselves and we have added a lot of tools since you used us. LiveWello is unique because it gives you much more than just a 300 SNP variance report: It will give you your Gene report for 600,000 SNPs and attaches 8 resources for learning to each Gene. This is helpful because you should have all the information in your Raw Data not just some of them. That way, you and your Heallthcare Practitioner can have the benefit of all this information when creating your treatment plan. So basically, as long as a SNP is in your Raw Data with rsID and Minor Allele, Livewello will generate your Gene Report for it. Livewello is also the only Genetics Application that offers you:

        ~A free Gene library with hundreds of free Gene Reports you can use: ,

        ~A free Health Conditions tool to get your Gene Reports based on your health issues:

        ~A Sandbox tool for Customized Gene Reports
        We also just added the population Genetics tool which is a graphical representation of how many other users share a mutation with you.

        With these features, we hope that it becomes the only tool a user needs to serve them throughout their journey to recovery and maintaining wellness. We have gone ahead and created 2 custom “Eric Templates” which includes all the SNPs you have mentioned in this blog post so that your readers who have 23aandMe and AncestryDNA raw data, can click on these 2 links to see their results as compared to yours:
        Eric part 1:
        Eric Part 2:

        Please email me and let me know any other suggestions you have.
        Access to App:

        • avatar

          Eric January 15, 2015, 4:12 pm

          Thanks Nancy, that’s very thoughtful and proactive of you, well done!! I hope my readers will take advantage of this:)

  • avatar

    Leon November 12, 2013, 2:50 pm

    AHCY (various heterozygous mutations) – SAMe is the key methyl donor generated from methionine; it is metabolised to homocysteine by AHCY. A defect could create something of a bottleneck, lowering sulphate and ammonia levels. This is not necessarily a bad thing if you have mutations along the transulfuration pathway (i.e. the CBS enzyme), which would cause taurine levels to rise (with a corresponding decrease in glutathione). You don’t have this problem. Ordinary methylation support is fine for this, since this will keep the cycle spinning.
    BHMT (various heterozygous mutations) – enzyme is responsible to converting homocysteine to methionine. It does this by way of “short cut”, missing out the normal B12/methylfolate-dependent route. Yours is probably working less optimally, which isn’t a problem if you improving the status of your methylation cycle via the “long route”. However, you could consider taking TMG (Betaine) to get this route moving optimally.
    COMT (one homozygous mutation) – this isn’t the V158M gene, which is the key enzyme for breaking down dopamine. Those with mutations on this gene have to be careful with taking too many methyl donors, because the gene uses methyl donors to break down dopamine. However, it must be read along with VDR Taq (note that +/+ means you don’t make much dopamine), which is responsible for generating dopamine. Taking too many methyl groups when you already have lots floating around (i.e. because your mutated gene isn’t using them) can cause mood swings, aggression, etc. This is why I think some people struggle with mb12.
    VDR – Yours is (+/+), which read with your normal V158M gene means that you have lower vitamin D levels, have poor tolerance to toxins and microbes, make less dopamine and need and tolerate more methyl donors. (Hence why you can probably tolerate high doses of methyl donors.)
    MAO A (heterozygous mutation) – responsible for breaking down serotonin. This can result in swings in serotonin levels, and therefore mood swings. If you’re affected, you might want to reduce foods containing high levels of tryptophan. However, it is likely that, as methylation status improves, serotonin fluctuations should also improve (based on improved levels of BH4).
    MTHFR (heterozygous mutation) – present in a high level of the population. It is the enzyme most in vogue at the most for analysing. It is responsible for converting inactive folate to active folate (i.e. methylfolate). Since yours is less efficient, your methylfolate levels may be on the low side. It also suggests that you should stay away from folic acid and, perhaps, too much dietary folate.
    MTHFS (homozygous mutation) – very interesting! Would suggest that you need very high levels of methyl folate. To explain this, Rich wrote Freddd a really interesting note, which I’ve reproduced below (

    Hi, Freddd.

    I’ve been thinking about your body’s intolerance of folinic acid and of vegetable-based folates. Vegetables contain folinic acid as well as methylfolate, and lettuce, spinach, carrots and peppers contain significant amounts of folinic acid. I suspect that it is the intolerance of folinic acid that causes your body to be intolerant of vegetable-based folate, also.

    Here’s what I suspect accounts for this. I suspect that you have an inherited deficiency in the enzyme methenyltetrahydrofolate synthetase (MTHFS). This is the only enzyme known to catalyze a reaction with folinic acid. If you have a deficiency in this enzyme, and you consume folinic acid, it will build up in your cells. The problem with this is that folinic acid normally acts as a regulator of folate metabolism by inhibiting enzymes in this metabolism. In particular, it inhibits the serine hydroxymethyltransferase (SHMT) enzyme, which normally is the main enzyme that converts tetrahydrofolate to 5,10 methylene tetrahydrofolate, which in turn is the substrate for making methylfolate.

    So, a deficiency in MTHFS will allow folinic acid to rise, and this will inhibit SHMT, which will lower 5,10 methylene tetrahydrofolate, and thus will also lower production of methylfolate, which is needed by methionine synthase in the methylation cycle.

    I think this can explain why folinic acid has been so devastating to you and why its effects are so persistent, once you have ingested it. It builds up, because the enzyme that normally controls its level by converting it to 5,10 methylene tetrahydrofolate is deficient. It stays high for a long time for the same reason. When it is high, it suppresses the SHMT reaction, which lowers the natural production of methylfolate, which then inhibits methionine synthase and partially blocks the methylation cycle.

    This would also explain why you have had to take such high dosages of methylfolate, especially if you have taken some folinic acid or vegetable-based folates, which contain folinic acid. The reason is that your normal production of methylfolate has been inhibited, so that you have to supply it exogenously. I suspect that in addition, your tetrahydrofolate is probably high, because it is the product of the methionine synthase reaction, and if SHMT is inhibited, that will tend to inhibit the conversion of THF to 5,10 methylene THF, so that THF would probably rise. High THF will likely exert backpressure (product inhibition) on the methionine synthase reaction, so that it is necessary to add more methylfolate to drive it at a normal rate.

    I think it would be very interesting to see the results of a methylation pathways panel on you. This panel measures a range of folate forms, and I think it would give some unusual results in your case.

    Best regards,


    MTRR (homozygous mutation) – MTR combines methylfolate and homocysteine to form methionine and THF. A defect is an upregulating, which would place greater demands on mb12 to provide the necessary b12 needed for the reaction. MTRR is important because it serves the MTR enzyme with mb12. You have several mutations in a variety of these genes, which may mean you are low in mb12. As I say, without this you cannot convert homocysteine to methionine, and therefore methyl donors such as SAMe are not produced optimally. This portion of your test means that inactive b12 wouldn’t work well for you.
    NOS (some homozygous mutations) – these enzymes are responsible for detoxifying ammonia. High ammonia is obviously undesirable, so you may benefit from reducing your protein intake, or supplementing according (e.g. yucca with meals) to keep levels down. Thankfully, you don’t have a CBS upregulation, which would have an additive effect on levels.

    Hope that helps. It seems as though you’re already supplementing according to your genetics. I’m sure others will have more…

    • avatar

      Eric November 12, 2013, 4:05 pm

      WOW Leon, this is so helpful, thank you for your effort, you’re very kind!!

      It will take me a long time to work through your information and what I got from my phone conversation with Brad, and I will be trying to figure out what the best way to organize the information might be, so it can help others too.



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"...nothing ever goes away
until it has taught us
what we need to know.

-Pema Chodron


My name is Eric - I‘m 46 and saw a doctor for fatigue at 17. I lived fairly normally if a little subdued by lack of endurance at times. But then, 12 years ago I fell into a nosedive after moving to South Florida. Now, I know heavy metal toxicity is a significant source of my troubles along with genetic methylation cycle dysfunction. I spent 18 months chelating the metals out and starting up methylation but stopped when I felt myself circling the drain. Currently doing liver, colon, kidney and parasite cleanses. More about me here.

Timeline and current dosing:

Rounds completed: 28
Total chelation days: 113
Dose: 25 mg DMSA and 25 mg ALA every 3 hrs

* supplements
* hair test
* genetics
* lessons learned

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