[Y]esterday evening I ran up to my computer and started clicking madly in every direction after I saw an email from 23andme.com 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 23andme.com data interpreted automatically for methylation info. That is something called Sterling’s app and it cost $20. Here’s a list of analyzers:
- Genetic Genie
- Livewello (highly recommend the SNP sandbox and variance reports)
- Promethease
- Sterling’s app
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.
DETOX | |||||
Gene & Variation | rsID # | Risk Allele | Your Alleles & Results | ||
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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! |
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PON1 Q192R | rs662 | C | CT | +/- | |
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TONGUE TIE / CLEFT PALATE | |||||
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 | – | |
*** | |||||
ALLERGY/MOLD | |||||
Gene & Variation | rsID # | Risk Allele | Your Alleles & Results | ||
HLA | rs7775228 | C | TT | -/- | |
HLA | rs2155219 | T | GT | +/- | |
*** | |||||
IgE | |||||
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 | -/- | |
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IgG | |||||
Gene & Variation | rsID # | Risk Allele | Your Alleles & Results | ||
FCGR2A | rs1801274 | A | AA | +/+ | |
GSTM3 V224I | rs7483 | T | CC | -/- | |
TNFRSF13B | rs4792800 | G | AA | -/- | |
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IgA | |||||
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 | +/+ | |
*** | |||||
CLOTTING FACTORS | |||||
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 | + | |
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METHYLATION | |||||
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 flavonoids, hibiscus 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. Check out what Sterling says: The 3 major FUT2 genes that seem to cause problems are FUT2 A12190G, FUT2 G12447A and FUT2 G12758A. When these three SNPs are homozygous, these people cannot make H antigen. Why is H antigen important? . . . Almost everyone to date who has been diagnosed with ulcerative colitis and Crohn’s disease are homozygous for these three particular mutations. These three FUT2’s play a huge role in autism. . . More or less, if you are lacking the ability to produce H antigen in the gut, your probiotics will not have anything to stick to in the gut. I normally do not recommend products and I am not affiliated with Klaire Labs in any way but they do have a prebiotic called Galactomune that contains galactooligosacchrides and beta-glucan. These are essential for anyone with the above FUT2’s homozygous in order for probiotics to stick to their gut and be utilized. | |||||
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:
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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. | |||||
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CELIAC DISEASE/GLUTEN INTOLERANCE | |||||
Gene & Variation | rsID # | Risk Allele | Your Alleles & Results | ||
HLA | rs2858331 | G | AG | +/- | |
HLA DQA1 | rs2187668 | T | CC | -/- | |
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THYROID | |||||
Gene & Variation | rsID # | Risk Allele | Your Alleles & Results | ||
CTLA4 | rs231775 | G | AA | -/- | |
FOXE1 | rs1867277 | A | GG | -/- | |
FOXE1 | rs7043516 | C | AA | -/- | |
FOXE1 | rs10984009 | A | GG | -/- | |
*** | |||||
EYE HEALTH | |||||
Gene & Variation | rsID # | Risk Allele | Your Alleles & Results | ||
BCMO1 | rs4889294 | C | CT | +/- | |
BCMO1 R267S | rs12934922 | T | AT | +/- | |
BCMO1 A379V | rs7501331 | T | CC | -/- | |
*** | |||||
MITOCHONDRIAL FUNCTION | |||||
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 | -/- | |
*** | |||||
OTHER IMMUNE FACTORS | |||||
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 | -/- | |
*** | |||||
SULFONOTRANSFERASE | |||||
Gene & Variation | rsID # | Risk Allele | Your Alleles & Results | ||
SULT1A1 | rs35728980 | G | TT | -/- | |
SULT1A1 | rs1801030 | C | TT | -/- | |
SULT1A1 | rs1042157 | A | NO CALL |   | |
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.
I’ve been doing a lot of research since my allergist/immunologist mentioned that my persistent sinus issues are not airborne allergy related. That instead I could have chemical sensitivity, oral food allergy or a metabolic issue. I found both chemical sensitivities & metabolic issues led me to looking at methylation.
I’ve always suspected an underlying problem, since I was hospitalized multiple times as an infant with iron deficient anemia. I was constantly sick growing up. One thing led to another. Here I am now searching for the root cause to my chronic fatigue, persistent funny nose & inability to lose weight. These could also be related to the heavy-duty IV antibiotics I received for six days following discovery of an appendix that had been leaking.
I appreciate you sharing the tables showing the genes, as that’s my next step.
Off to read more on your website, thank you!
Thanks for writing Helen! It has been years since I got my genetics data and I’m still reaping new benefits from it every once in a while.
Hi I had my 23andme test done last year. I am homogenous for C677t. I have since discovered through a Boston heart test that everything is good including homocysteine EXCEPT I am at very high levels for ALL the inflammation markers like fibrinogen, hs-Crp, mpo? Lol I can’t remember the names. Suffice to say I am at high risk for a stroke or heart attack. I’ve been tested by a vascular Doctor and a rheumatologist and they have no idea what’s causing it. I do take l-methyfolate. Any ideas where i should be looking? I find this all so confusing. I did notice many of my mitochondria genes are in the red and you didn’t mention anything about those?
Well they say everything starts in the gut. What’s your diet like? Have you tried going gluten-free? Are you allergic to mold? Do live in a moldy climate?
hi! I am researching my genetic raw DNA data from my 23andMe account and geneticgenie results and whatever else can help me in my ever so lacking biology knowledge lol As this article is several years old and I was curious what genetic sites you would recommend that would interpret my 23andMe raw data dna file? I have already survived cancer as a kid, suffer from cyclic vomiting syndrome, chronic migraines and a lot of other oddities and would love to regain some health… live a little less ‘Rapunzel-esque’ lol Thanks in advance!
Ally S.
seems to me that livewello is very robust… Speedy healing to you!
awesome, thank you 🙂 I think i will keep on with livewello for interpreting dna results. I like how it’s kind of an everything in one place when you make a profile.
I do like it but I get lost in there too, just about every time…
Great job, and thanks for sharing. I’m a Lymie, and I’ve addressed methylation issues, and now learning about gut health.
Eric, did you ever do the Organic Acids Test? That gave me VOLUMES of information about what was going on with me. 23andme simply confirmed what might be causing what is going on in me.
For example, based on what was seen in my urine, I found out that I have several Mitochondrial blockages based on the fact I have very high Succinate and very high Malate (both an ATP Production issue, aka inefficiencies in energy production) Succinate metabolism may be impaired due to low cofactors (Fe or B2). My a-Ketoglutarate was also heading up, l showing a need for additional CoQ10. . My Hydroxymethylglutarate was also almost high, which is a metabolic block and also implies I need CoQ10. i.e. the need for CoQ10 was mentioned a lot. Then VOILA, I go back to 23andme and discover I have three homozygous mutations for CoQ10: rs1142530, rs2332496 and rs7258846
I also have a fatty acid issue with Very high Suberate, which seems to be related to low carnitine. i.e. Suberate is a product of incomplete oxidation in the omega-oxidation pathway. So I’m on Carnitine and also B2, which is needed.
There’s more but you get the drift. I think you would also get excellent information for your journey.
Thanks Janie, I did have an organic acids test about 10 years ago, but I think it’s time for another! At the time I didn’t have DNA information so never did the correlations… my alpha-ketoglutarate was low, but I never got a good explanation for what that was about, just that it might something to do with fatigue. Supplementing AKG did not help however.
When an organic acid is low, it can happen because another acid is being blocked (and thus high in your urine) and thus not converting to the now low other one. There is simply valuable information to learn from. I purchased the professional student edition manual to help me interpret it all. I’m a mito mess right now but at least I have clues now as to what to do.
makes sense, thanks Janie 🙂
FYI: because of the OAT results, of which I have done TWO now (one last year, one this year), I believe I am on my way to recovery. i.e. both OATs clearly showed I have a energy production problem, and many times said I needed CoQ10 (plus B-vitamins and other important supplements to treat my mito issues). But taking CoQ10 for months wasn’t changing anything. Yet, the other supps had lowered two other key organic acids that were spilling over (under fatty acid and carb metab)
So after a major, awful crash I had in May of this year after a day of high activity, I redid the OAT..plus this time I went back to LiveWello’s information on my 23andme genetics….and there it was in black and white. On the OAT, I had an organic acid SO high it couldn’t register any farther on the right–and it’s TOTALLY connected to lack of CoQ10. A second organic acid was almost as high…also related to CoQ10. Both were under Mitochondrial. On LiveWello’s information, I have THREE homozygous mutations for CoQ10. BINGO.
So I made a strong supposition–I probably needed ONLY the ubiquinol version of CoQ10, and I got liquid….and I started on 1500 mg of it sipped throughout the day. And voila, I am noticing some very interesting improvements 1) I’m not as fatigued while detoxing copper (yes, I started detoxing again several weeks ago due to taking high doses of phospholipids–didn’t expect that–was taking them for something else) and 2) I don’t feel the lactic acid burn when walking up stairs. The latter is HUGE, HUGE. I’ve had the lactic acid burn my entire adult life, which got FAR worse the past year. That tells me I’ve always needed more CoQ10 and just got by…until last year.
I’m probably going to need CoQ10 supplementation my entire life…and definitely a bit more on an energetic day.
Anyway, I have more progress to make in a few more areas as revealed by the OAT, but there are CLEAR improvements going on here. Whenever my body decides it doesn’t want to detox anymore (which is fatiguing in itself as it requires healthy mito), I will be very keen to see how I feel now that it seems I am correcting so much in the energy metabolism area….FINALLY.
By the way, read that having problems in your mito promote the rise of heavy metals…..
That’s great Janie! I’m hoping to do the Genova NutraEval test soon which includes organic acids… I’ve been taking CoQ10 for years now and have also tried ubiquinol form but I think I will take a look at CoQ10 on livewello. thanks for the update 🙂
Janie, how do I find the coq10 templates on livewello… I’m striking out 🙁
What can you do if you are +/- for Rs1056836 ? which supplements do you take? many thanks!! 🙂
I want to do phone consultation with you for my results so plz do email me.
Many regards,
Nina
sorry Nina, I don’t do any consultation, not even remotely qualified to do it lol…
I work for The Wellness Center and Dr.Rollins is a DO who knows how to interpret these results. We do skype consults. Call us for an appointment 817-926-9642.
Thanks for sharing your experience on figuring out how to fix your problem areas. I am so lost with mine! I am looking for a genetic counselor who can interpret my 23andMe raw data in the simplest form, along with the advice on what to do and which supplements to take, etc. Any recommendations? Thanks in advance
I’ve never used any but my current M.D. has been learning about detox flaws – it is possible to find doctors with some genetic knowledge…
Eric, where do you get your gene interpretations? I used all the apps that you mentioned on this forum. None of my reports came with such a detailed info like yours. If you don’t mind can you please share the websites that you are using as your research go-to sites?
I didn’t use any single website, just a mishmash – a little from here and a little from there including a telephone call with someone like me who’s been through the ringer and has a better memory than me…
I am a genetic counselor, certified in methylation and clinical nutrigenomics. I am also a holistic health practitioner. I have lot’s of experience decoding and interpreting DNA and genetic polymorphisms, making them understandable for you, and putting together a personalized protocol to help address the mutations that can be bypassed. If you send me your raw data at my website http://www.elevatedhealthsolutions.com I can help you address not only methylation issues, but other relevant SNP’s as well.
Hi- can u explain how u are targeting detox. I received my detox report through genetic genie bit can’t find any information about how to address this.
There are two forks – methylation support and MSH recovery. I’m going to blog about it soon… lots of info on methylation support on my website already and if you want to research MSH, look up Dr. Shoemaker and MSH/HLA genetic flaws.
At the start of this blog you state that you used 23andme and the sterling ap for the data presented. Further down you list your GSTM1 and GSTP1 genes. It appears that 23andme doesnt provide the GSTM1 genes so I’m curious how you determined those. 23andme reports both GSTP1 genes and if GSTT1 is present or absent but GSTM1 doesnt seem to be available. Using the rsXXXXXXX for each marker Ive search my raw data and can only find one GSTM1 reported, one that is no call and the rest are simply missing. If you can shed any light on how you found those out I’d really appreciate it.
Additionally though Ive only scanned through a handful of your pages I noticed you were interested in mold as a potential issue but gave up on the Shoemaker theory after passing the VCT. From what I read so far on your blog combined with your worsening after moving to Florida (mold central) my gut instinct is that biotoxins may be an important part of your health issues. A small number of mold toxin individuals can pass the VCT but still be chronically inflamed. You should consider getting the HLA-DR by PCR genetic test to see if you have a susceptible haplotype. Additionally its likely worth getting a few basic labs to simply rule out chronic inflammatory response syndrome. MSH, TGF B1, VEGF, C4a, ADH / Osmolality, etc. Just my two cents. Best regards:)
you are right on track Craig! my doctor has been learning about Shoemaker and she asked me to take a raft of blood tests. She started out by asking me if I thought I was bio toxic and I said “yes of course!”. And the tests came back positive. I’m going to see her for the follow-up next week and hope to talk about cholestyramine… I suspect that a lot of the inflammation comes from fungal infection in my gut. Kind regards, Eric
Glad CIRS / Biotoxin illness is on your radar and your doc is learning more about the Shoemaker protocol. I’d be very interested to see your lab results and HLA once you get them back. Ping me if you post them. Did you do the Neuroquant brain volume study? If you did it and need the Shoemaker interpretation scorecard I can share that with you. If your markers are indeed consistent with biotoxin illness it will be important to do an ERMI or HERTSMI-2 test through Mycometrics to evaluate your living space / work for mold before starting any binders like cholestyramine. The first step in the protocol is making sure your home and work scores 2 or less if your MSH is under 35 or -1 if you have MSH below 10. MSH is likely one of the tests you just did.
My original post had two parts, the first paragraph was about how you found your GSTM1 genes. Can you shed any light on this? I’m still having trouble finding that gene info in 23andme. I can only find GSTT1 and GSTP1. See original post. Thanks in advance and good luck exploring Biotoxin Illness.
Sorry about that Craig, I was in bad shape when I was responding to comments last night lol. Doing my Ivermectin yesterday and today… I wish I could help with the GSTM1 thing, but I really have no explanation. I’m kind of at a loss as to why some genes show up sometimes on one person’s report and not on others. I’ve done my whole family and the reports don’t seem to match up perfectly. I really don’t spend enough time with this stuff to master the details. I just fly in and out and hope I’ve done something useful.
I did not do the brain volume study and I will post my labs and doctor’s comments for you. They are scanned and just waiting for me to do a post. Hopefully this weekend, or maybe I should do my taxes instead!
My environment is as mold free as it gets. The humidity is so low here and my house is just about perfect.
Kind regards,
Eric
23and gives about 14 GSTM1 SNPs. Here they are: https://livewello.com/library/gstm1-snps-1754?id=6737166583988224