[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.