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

    healingjourneygirl October 30, 2015, 4:36 am

    Eric. Thanks for the comment. I have no problems taking zinc picolinate (Thorne) and magnesium bisglycinate (Kirkman Labs). I also have high copper (I know there are different reasons for high copper…I am not sure what my reason is biounavailable, build up etc.) that I am trying to balance / get rid of, which is why I need to increase my iron levels. I can take my iron supplement if I don’t take my methylfolate supplement (I alternate between Methylguard / Deproloft). One supplement that make me violently ill is molybdenum. Do you know some reasons why someone would get so ill from Molybdenum? At the moment, I can only cope with taking 1 Methylguard capsule every other day (maybe a few times a week)…any more than that and I cannot function as my body starts feeling hypersensitive and strange and my food sensitivities increase.

    • avatar

      Eric November 1, 2015, 3:27 pm

      sorry, no idea…

  • avatar

    laure October 24, 2015, 3:11 am

    I am looking on 23 and me for that area where they show your risk. I see you have a screenshot of it at the top of the page. Where did you get that read?


    • avatar

      Eric October 29, 2015, 3:05 pm

      that’s information that 23andme no longer provides thanks to the FDA…

  • avatar

    Tonny October 22, 2015, 1:06 pm

    We are waiting on 23andMe results. I have no idea about any of this stuff in order to interpret my results so this blog post will help tremendously. Was all of this information provided by 23andMe or did you have other genetic testing done to get all this information?

    • avatar

      Eric October 29, 2015, 3:01 pm

      most of the info came from analyzers like

  • avatar

    Alison Reed October 16, 2015, 11:05 pm

    Hi again Eric. This is a fantastic post that will help a lot of people. I did the Yasko genetic tests years ago, which were limited to methylation only, and have not yet done 23&me. I can see immediately that further testing would be well worthwhile to get a better picture on my genetics. Laying it all out here with explanations makes it so much easier to understand. You’ve done a great job and I’m going to bookmark this page as a reference for future use. As an aside, I too saw Woliner about the same time, around 2005, and I agree with you on the “knew enough to be dangerous part”. He didn’t help me at all but then again neither has anyone else. Kind of feel like Florida is the black hole of the universe when it comes to medical care, traditional or functional. Take care. Best in health.

    • avatar

      Eric October 18, 2015, 4:07 pm

      hey Allison, what a coincidence that you also saw Dr. Woliner!! that blackhole covers more than just Florida:) to your health..

  • avatar

    healingjourneygirl October 14, 2015, 10:53 pm

    Since these defects are so common, then they aren’t really defects at all. I think diet, lifestyle and the environments we are living in are causing many people to have problems from their genes. I have MTHFR problems and I constantly go from feeling good to bad. I recently had a very stressful event that affected my healing (the stress was so bad it caused dry mouth, heart palpitations, nausea, pain in my liver and I couldn’t eat properly for three days!). I am trying to find a balance in my mthfr protocol. I am okay with taking my supplements except iron. I am taking the most gentle form of iron I know (no, it doesn’t have folate or anything else) and I get sick from it. Any suggestions?

    • avatar

      Eric October 18, 2015, 3:55 pm

      yes! start reading Morley Robbins writings about copper toxicity and iron supplementation – I wish I had the perfect link for you but I think you can have to spend a couple hours hunting around. I’m going through the same thing with my wife whose iron is very low. iron supplementation has never really helped so I’m going down the path suggested by Robbins, Malter and other mineral balancing experts: basically to increase magnesium, but there are other steps too. you might join this Facebook group and ask your question there: here’s another place to start:


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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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