Genes, Methylation and Your Health

Today’s topic is controversial because few physicians bother to test, or interpret genetic code. But for me, I’ve seen how my own genetic SNPs as well as those of my friends have impacted their health, and how dietary supplements improve problems caused by genetic speed bumps (for lack of a better word). I don’t like the idea of bad genes, or genetic “glitches” because we are WHO we are, and we are based upon our genetic code, speed bumps and all. Genes don’t make us bad, they make us who we are.

For the first time ever, we live in a world where we can get the information needed to control our destiny. It could hold the key to you ultimately getting well. I’ve seen it happen over and over. Call it Star Trek medicine if you want, but knowing your genes today may help you 10 years from now.  It’s futuristic. If you know your risks now, you can prevent health catastrophes sooner, rather than later.

I love genes. I have been pondering genes for many years. When I was a kid, I used to want to grow up and become a geneticist. I love how the crystalline DNA structure makes us all unique. We are basically crystalline beings if you think about it from a genetic sequencing standpoint. My friend came over to sit with me by the little fire pit I have in my porch, somehow, we got on the topic of genes because my computer was open to my personal gene test. She asked me what I was doing, and what I was reading.

I showed her my homozygous MTHFR gene mutation (for methylation) and then playfully said, “I don’t drink much alcohol because I have this methylation SNP and don’t want to end up dancing naked on the table!”

She giggled because she got the gist of my comment [Suzy doesn’t tolerate alcohol well], but then she asked, “What’s a SNP?”

It’s pronounced “snip.” 
It stands for Single Nucleotide Polymorphism.

I replied, “SNPs make up your genetic personality, they are neither good or bad,  they just occur in your DNA strand from mom and dad.

SNPs Happen!
Some people call SNPs “polymorphisms.” If it’s easier you can just call them speed bumps in your DNA. Your genetic code and particular SNPs explain why you have blue eyes, brown hair and other personality traits. SNPs might explain why you get sick easily, why some people sneeze in bright light, why you’re sensitive to certain medications, why some of you have an autoimmune disorder while others do not, and why some of you hate cilantro! No one has exactly the same DNA because we all have different SNPs (speed bumps), yet we share many SNPs in common, not all.

Have a weird predisposition or propensity for certain medical problems?
Have a distaste for certain spices?
Can’t take certain medicine?
Have a unibrow?
Left handed?
There’s a SNP for that! 

Hey that reminds me of the witty phrase, ‘There’s an app for that!’

At the end of my article, I will tell you how to test your own genes, and find out if you have certain gene SNPs.
Even if you don’t like genetics, I feel it is critical for you read today’s article and try to learn how certain SNPs could correlate with your illness, for example heart disease, high cholesterol, cancer, fertility issues, diabetes and even quirky personality traits.

My friend was so fascinated by this that she went home and literally ordered a test kit to see her own genes and what role they might have played in her getting breast cancer many years ago. The test requires saliva.

Digging Just a Tad Deeper
I’m going to keep things simple. Super simple, so all you geneticists, please forgive me for leaving the details and exceptions out of this article. You can certainly comment below, on the thread where everyone writes to me.

Your gene copies come from your mother and father. You get one from  mama, one from papa.  At every point along the DNA strand there are alleles, which means one member of a pair.  Picture a long windy road and the “alleles” along this road are twins… picture two women in denim shorts holding either a PLUS sign, or a MINUS sign.

Just picture that, it’s either a + or a – sign that they’re holding. Every few miles you drive, you see twin ladies holding up their sign. These twins are your alleles, and there are two alleles (one for each twin).
If you are “homozygous” that means you got the same variant from both parents. It means the twins are both holding up a plus sign so it is +/+.
You will express the trait.

If you are “heterozygous” for a trait, that means you got different genes from each parent. So in our example, driving down the road, one twin is holding a plus sign, the other a negative sign, like this +/- and you may or may not express the trait.

If you are “homozygous” negative, you will not express the trait for that gene. It is shown as -/- on your gene report.

Now, each cell contains mitochondria, there are hundreds, and all of those come from your mom. Sperm do not carry mitochondria, only eggs so way back when you were an embryo, you inherited half your genome from mother and half from father, but ALL MITOCHONDRIA came from your mother’s egg.  If a mutation occurred in her mitochondria, then all of your mitochondria will be mutated as well. As I go through the following genes, keep in mind that I’m referring to a homozygous situation of both alleles from mother and father being positive (two plus signs are being held up by the twins); this implies a higher risk of occurrence that you express the trait tied to that gene (because both alleles are positive).

If you already did a gene test, take a look at your genetic report now. You will see all kinds of genes and each gene has a SNP. For example, the gene abbreviated as GAD1 has many SNPs, including rs3749034,  rs3791877, rs2241165 and others.
GAD1 is the gene and each of those letter-number combinations are your SNPs.

The basic rule here is that you can have a gene, with many SNPs. Having a GAD1 mutation would give you a higher risk for type 2 diabetes and other GAD snps (GAD65) may contribute to a rare neurological disorder called “stiff person syndrome.”

While reading your gene report, if you see a heterozygous mutation would that just means you are less likely to express it in it’s fullest form. It’s not a simple thing you know … dominant versus recessive traits. There’s codominance, and other factors that I won’t discuss here. My point is there are many, many factors that go into whether or not you express a particular trait. Did I say many?  Yes! So please don’t freak out if you’re reading your genetic report and you are homozygous for a gene that is tied to cancer. It does not mean you will get cancer okay? It just means you have a speed bump in your genetic code that genes that increases risk so you should be especially careful about lifestyle, diet, stress, environmental pollution, radiation, medications, xenobiotics and every other factor that goes into the formation of cancer in the human body.

Here’s a little screenshare video I made to explain “Methylation in a Minute

A Closer Look at Your Genes

Breast cancer. Who can forget Angelina Jole’s bold move to undergo double mastectomy in 2013 after finding out she had SNPs in the BRCA1 and BRCA2 gene which regulates cell division and cell growth and increases risk of cancer everywhere in the body. In 2015, she opted to have her ovaries and fallopian tubes removed too, thrusting her into menopause and the use of medicine such as hormones (which I feel increase cancer risk far greater than a gene). These genes were made famous by the actress and are probably the most famous genes of all.  The increase risk of cancer all over the body, not just the breasts but for this to express, many other factors have to collide.

I want to be clear. Having the BRCA1 or 2 gene doesn’t give you cancer, more specifically these genes are associated with increased risk, just like hundreds of other genes that we all have. And it’s not just risk of breast cancer, it could also raise risk for ovarian, pancreatic cancer and other cancers. Because of the inordinate amount of press, and the dangers of unnecessary surgery, I really want to make sure that you understand this gene does not give you cancer, a gene has to be activated by other epigenetic factors, such as lifestyle and dietary factors, stress, hormones, xenobiotic exposure, oxidative damage, AGEs (advanced glycation end products) and many factors that potentially collide to cause cancer. Angelina based her surgeries on a SNP, and her family history (mother died), but again, having a SNP does not necessarily dictate your future because the SNP may never come to express itself.  In fact, most SNPs don’t come to fruition.

My personal belief is to never treat a SNP unless it’s giving you a symptom. Ways to reduce cancer risk include the obvious such as improving lifestyle factors and eating a healthy diet, as well as elimination or avoidance of pesticides, xenobiotics and pollutants. Supplements that help improve your odds and might fight cancer are basically your antioxidants, such as A, D, E and K, selenium or CoQ10. Natural plant-based antioxidants like grape seed, resveratrol, quercetin, pomegranate, green tea, blueberry/bilberry and dozens of others.

Remember, you don’t treat a SNP, you treat the person.

Taking Birth Control or Hormone Replacement? It’s a problem if you have a SNP in cytochrome P450 enzyme system. In particular, CYP1B1 or CYP1A2, which slows down the breakdown of xenobiotics (fake estrogens) causing them to build up in your system and increasing risk of breast and ovarian cancer. Avoid fluoroquinolone drugs if you have a SNP in CYP1A2 (like me) because these drugs are strong inhibitors of the gene and the drug will build up quickly.   Strong inhibitors of the gene reduce clearance of the offending medication which gets metabolized through that pathway. In my example the “FQ drugs” or fluoroquinolones as they are known pharmaceutically are drugs that get metabolized through this pathway CYP1A2, and if you are homozygous positive (+/+) it doesn’t work well to begin with so the FQ drugs build up, and they get toxic quickly. They have a black box warning already from the FDA for tendon ruptures. I wonder how many of those people with severe side effects from FQ drugs had a SNP for that?!
I’m trying to warn you: You don’t want to get yourself “floxed” trust me! Tendon rupture will be the least of your concerns if you get hurt from these medications. So unless you have a life-threatening infection, that only respond to an FQ drug, then I recommend you avoid ciprofloxacin, levofloxacin and the rest of the clan in that drug category. I’d avoid them anyway, but especially if you have SNPs in the cytochrome pathway.

Sensitive to chemicals or medications? If you are homozygous positive (+/+) for the PON1 (paraoxonase 1) gene, you need to stay away from nuts and foods containing pesticides, herbicides or fungicides. PON1 is pronounced “Pon one” if you’re saying it out loud.

This gene SNP will give you some trouble clearing the metabolic waste, and poisons from your body. Imagine a sanitation truck that is slow-moving, never getting to all the homes on a designated day. The garbage builds up faster than the sanitation man can get to it.  A PON1 gene means poisons in your body build up, in your cells, in your blood stream, everywhere. If you have my Headache Free book, you know my old saying, I repeated in my book over and over: If it backs up in your blood, it backs up in your head! So a PON1 gene can make you more susceptible to all kinds of illnesses and pain, including migraines.

While there’s no direct study to prove this, I bet the PON1 gene is extremely common in people with ‘Multiple Chemical Sensitivities’ because they react to everything, perfume, bleach, smoke, soap, carpet fresheners and those smelly things that hang from the automobile rear view mirror! Anything can set off a person with a PON1 gene, especially pesticides so you should eat organic, as often as possible. If not, the pesticide sprayed on the food will go into you and probably never leave. A PON1 gene makes your cells a sponge for all things poisonous. Go natural as best you can.
In summary, PON1 gene SNPs mean you there is trouble breaking down ALL synthetic chemicals, including pharmaceuticals. You don’t think of pharmaceuticals as synthetic chemicals but that’s what they are. Drugs don’t grow from trees!  

So if you have a PON1 gene SNP, especially in combination with a methylation gene SNP, and the need for medication should arise, you should heed my advice: Start with very low doses of medicine to make sure you don’t over-react!
Your PON1 gene will make you hyper-reactive to medicine.
The PON1 gene will also badly affect you if you have high homocysteine and it may cause high levels of a dangerous metabolite called “homocysteine thiolactone.” I’ve seen this mess up close and it can have catastrophic effects on a person’s life. It is bad news for your brain and body. Homocysteine thiolactone can cause mental status changes and seizure-like activity. If your physician doesn’t catch this, you will be treated with anti-seizure drugs forever, and still have break-through seizures and the reason is because nothing is being done to treat the true underlying cause of the seizures (the high thiolactone).

My friend and researcher Dr. Ben Lynch uncovered research to show that Valtrex is a medication which reduces homocysteine thiolactone. Once you go off the drug, the homocysteine thiolactone climbs back up so you still have to try to find out what is causing the high homocysteine (almost always a methylation block, see www.MTHFR.net) .

You can go through the ‘back door’ if you have a PON1 gene, especially if you have an intelligent doctor who understands what makes it run. Two minerals that come to mind that help a PON1 gene, and these include low dose copper, and low dose calcium.

Thyroid cancer or Hashimoto’s? These conditions could be related to a homozygous FOXE1 gene which has been correlated with various thyroid disorders including autoimmune thyroid disease (Hashimoto’s) and hypothyroidism. FOXE1 stands for “Forkhead box E1.” Certain alleles are tied to spiky hair and cleft palate. The FOXE1 gene also causes impaired conversion of beta carotene into vitamin A (supplements of pure vitamin A may be necessary to prevent deficiency because no matter how many carrots you juice, the beta carotene won’t convert to A) and basically, it’s vision problems galore with that kind of deficiency! I actually have this gene SNP (3 heterozygous SNPs) but luckily no expression of Hashimoto’s disease. Thyroid is my specialty.  If you are interested in more thyroid information, you will want to read my new book, Thyroid Healthy. Also I have formulated a unique blend for thyroid support, ThyroScript supplement.

Panic attacks? These frightening attacks are often tied to magnesium deficiency, or other trace mineral imbalances, but guess what, there could be a SNP for that!
Shocking isn’t it?!
The COMT gene short for “Catechol-OMethylTransferase” is related to your brain chemistry. More specifically, mutations in the COMT gene may slow the normal break-down of dopamine, epinephrine (a.k.a. adrenaline) or norepinephrine, three compounds that rev you up. With slowed break down, there is an accumulation of these hormones, they become elevated inside your body and brain. Elevations in any one of these neurotransmitters will increase anxiety, panic attacks and even symptoms that mimic schizophrenia. No medication at my pharmacy will help you overcome the SNP, but they do help balance your neurotransmitters, albeit temporarily. That’s why knowing your SNPs matters so much.

This is the innate failure of medications, and speaks to the importance of having a physician who understands genotyping and epigenetics. Let me tell you, COMT genes will worsen PTSD symptoms, as in post traumatic stress disorder from Iraq, Afghanistan, Vietnam… even child abuse, sexual trauma and so forth.

If you have a COMT gene SNP, and  also a methylation (MTHFR gene SNP), and therefore you’re taking some methyl donors (SAMe, betaine, methylcobalamin) you might be  making yourself more anxious. This is one more reason it’s better to eat your methyl donors (green veggies and fruits).

Bulemia? ADHD? This may be tied to a COMT SNP.  COMT stands for catechol-O-methyltransferase. The COMT gene helps you make an enzyme that break down dopamine, epinephrine, and norepinephrine (3 stimulating enzymes).  Now, if you can’t break those down completely, or fast enough, then you get overstimulated and all that comes with high levels of these neurotransmitters. If you are deficient in methyl groups, COMT activity slows down (neurotransmitters build up).

Crohn’s or digestive problems. Disorders of the gut, especially the inflammatory ones like Crohn’s could mean you have an FUT2 gene. This gene is associated with reduced levels of bifidobacteria in your intestines. This could translate into disease if all other factors collide.  If you are homozygous for FUT2, I recommend you supplement with probiotics that contain strains of bifidobacteria. FUT2 stands for fucosyltransferase 2. Lower bifido counts are tied to irritable bowel syndrome (IBS) and constipation or diarrhea (bowel disturbances).

The pink elephant in the room right now is how insufficient gut microflora means you get sick more often, or you can’t heal. You see, your immune system cells live in your gut so having an FUT2 gene indirectly influences the strength of your immune system. If you have a chronic illness or autoimmune disorder, you need to see if you have an FUT2 gene, and if so, supplement with bifido strains. Make sure your probiotic contains them. Supplements of “Lactobacillus” do not contain bifido strains. Be sure to inform your physician who will learn more from you, but also approve everything you do especially since I don’t know what’s right for your particular illness or situation.

High iron? You could have hemochromatosis which shows up as a homozygous SNP in the HFE gene, the high risk allele is HFE C282Y.  Hemochromatosis is a problem of iron metabolism and causes your body to hoard iron, storing excessive amounts. Symptoms may be mild or severe and may include: increased skin pigmentation, arthritis, reduced production of testosterone, diabetes, heart arrhythmias, heart failure, cirrhosis and/or  higher risk of liver cancer.

Low B12? Could easily be tied to a probiotic deficiency (or eating lots of junk food) or perhaps even a vegan diet.  But, if you have low B12 (methylcobalamin), there’s a SNP for that! It’s in the gene MTRR (Methionine Synthase Reductase) which regenerates methyl B12 or “methylcobalamin” which is needed to detoxify homocysteine and turn it into methionine.  If your MTRR pathway is defective due to a SNP in the MTRR gene, bypass it nutritionally. Yes, go around the back door and supplement with a high-quality B12 supplement (not cyanocobalamin, those are not high quality in my opinion).

Run to the bathroom right after you eat? This could indicate a classic symptom of Celiac disease. Your ‘irritable bowel’ may be associated with the HLA DQA2 gene. Just because you are positive for the gene, doesn’t mean you have Celiac disease. I am a classic example, because I am double homozygous for this gene, yet have no digestive problems whatsoever. But I gave a copy of this gene to both my children, now 22 and 25 respectively (and still feeling well). The environmental factors have to collide to activate the gene and express full-blown Celiac. Nevertheless, if you have this gene it is best for you to avoid gluten. Whether or not you have this gene, it’s probably good to avoid gluten since no body can fully digest it and it is just an additive anyway. It doesn’t have nutritional value.

Alzheimer’s disease. The MTHFD1L gene has been correlated with this disorder, meaning having the gene SNP will increase susceptibility (not necessarily cause it though). The gene stands for “Monofunctional C1-tetrahydrofolate” and simply put, it’s responsible for active folate in the mitochondria. Remember your mitochondria produce energy for you. A SNP in anything that hurts your mitochondria will make those cells sicker (potentially).  So in this case, mitochondria by the millions are suffering and dying and this is correlated with cognitive disorders. It makes total sense to me.

But we do not usually get a disease from one particular SNP, often it’s a combination of various SNPs that cause the issue. Another gene, the superoxide dismutase or “SOD” gene may also play some role. We know that the brains of Alzheimer’s patients show reduced cellular levels of SOD enzyme.  SOD is needed for the body to quell free radical damage. It’s like a wet blanket on a fire! High levels of homocysteine, (associated with methylation C677T SNPs and therefore, too little folate) have also been correlated as a risk factor for Alzheimer’s disease. Having a particular gene doesn’t cause Alzheimer’s, many epigenetic factors have to collide for the disease to express itself. That said, your risk is much higher if you have an SOD, MTHFD1L and MTHFR (methylation) SNP.  I actually have several mutations in my SOD gene, so I take supplements to get around the back door of this SNP by taking SOD and manganese. I have put a screenshot here for you to see what I’m referring to. The 2 variants that I am homozygous positive (+/+) are shown in red, with the alleles rs2758331 and rs4880.

SOD-snp-Suzy

Can’t tolerate alcohol? Prone to miscarriages? There’s so many other issues associated with a methylation SNP. The gene is abbreviated as MTHFR which stands for “Methylene TetraHydroFolate Reductase”  and it is dependent on having enough natural folate, a B vitamin you get by eating leafy greens like kale, salad and chard. I’ve written a lot about methylation, CLICK HERE to learn about it.

People mistakenly assume that taking the dietary supplement called “folic acid” gives them folate but this is not correct. Folic acid is a synthetic version of natural folate. You can buy natural folate as a dietary supplement too, you just have to know what to look for. (That’s what you have me for).

** I added this list on 4-17-15 because of questions below in the forum** 
Natural names of folate:
Levomefolic acid
5-MTHF
L-methylfolate sometimes abbreviated as LMF
5-methyltetrahydrofolate
(6S)-5-methyltetrahydrofolate abbreviated as (6S)-5-MTHF
These forms that I’ve just listed are the names of the biologically active form folic acid (folate) used in cells for DNA production, the cysteine cycle and the break down of homocysteine. Natural folate can cross your blood brain barrier. Inside your cells, this form is used in the METHYLATION cycle which helps you convert homocysteine back into methionine and THF (tetrahydrofolate). It’s a good thing, you don’t want homocysteine to build up, it’s a risk factor for many illnesses because it’s a pro-inflammatory cytokine.
REMEMBER “FOLIC ACID” IS SYNTHETIC, it is the UN-methylated form sold as vitamin B9 (folic acid) in most dietary supplements, especially the more affordable ones. It is very inexpensive to make. It is NOT biologically active until it undergoes biochemical reactions.
** This marks the end of my new content, added 4-17-15 **

When you take folic acid (instead of natural ‘methylated’ folate, see above list for names) you don’t do yourself any favors, in fact you could be blocking your cell’s receptors for natural folate (5-MTHF) with the synthetic chemical version of unmethylated “folic acid” (not good).  Be choosy when buying vitamins. You can visit my Script Essentials site, or dozens of other high-quality companies that are available today. Anyway, the point of this is NOT about folate, it is about the methylation SNP, a really common one that affects about 40 percent of the population, myself included. Having a methylation SNP (C677T) will increase homocysteine, a pro-inflammatory cytokine associated with hundreds of disorders including heart disease, progressive neurological disorders, cancer and cognitive dysfunction. Having the methylation A1298 SNP doesn’t usually raise homocysteine, but it does interfere with your production of SAMe, just like C677T.

Medications that are drug muggers of folate will induce a methylation problem whether or not you have the gene! There are hundreds of drugs that steal the nutrients needed for adequate methylation, so please refer to my Drug Muggers book for a complete list of the offending drugs that trash your folate levels. And for excellent information on methylation SNPs, visit the world’s leading authority on this, Dr. Ben Lynch site, MTHFR.net   If you want more awesome information  about medication and how it affects your methylation process read my article Medicine Messes Up Your Methylation.

Depression? There are many SNPs that play a role in neurotransmitter imbalances. Among them, vitamin D due to a SNP called VDR Taq. If you are homozygous for this, you’re prone to having vitamin D deficiencies. Keep in mind, vitamin D influences the amount of dopamine you have, dopamine is a major neurotransmitter, it’s one of your primary ‘happy’ brain chemicals. It ranks up there with serotonin! Having a VDR (vitamin D receptor) SNP doesn’t automatically make you depressed, it’s just a consideration.

A VDR mutation is also sometimes associated with higher risk for breast cancer as well as oral squamous cell carcinoma, however you have to keep in mind that monitoring D levels properly, and supplementing goes around the back door. Your SNP doesn’t determine your outcome in life, but knowing the SNP can help you prevent a problem because you can monitor. In this case, having a VDR SNP means you have to be vigilant about your D levels and supplement if necessary. To read more about testing D levels, read my most recent article CLICK HERE.

Interesting Quirky Personality Traits

Loathe cilantro or coriander? Some people can’t stand the smell of it, and think these spices taste like soap. It’s not your fault. It’s tied to genes associated with smell, more specifically the OR6A2 gene. This gene encodes a receptor that makes you especially sensitive to aldehyde chemicals, which is exactly what goes into making coriander and cilantro taste the way they do. Can you overcome the aversion? Only if you psyche yourself up or mask it with other herbs and spices. Maybe if you hold your nose…

Sneeze when you leave a movie theater? It’s called “Achoo Syndrome.”
Seriously! The uncontrollable sneezing happens when your eyes are forced to quickly adjust to light (after being in the dark for awhile). If you look at bright light, it makes you sneeze. It’s also called the photic sneeze reflex and was discussed way back in 1984 in the New England Journal of Medicine. Approximately one in four people feel a tickle (or sneeze) when looking at bright light so it’s kind of common. There isn’t an exact gene for this, the allele is found on the “intergenic” region of your DNA strand.  Using my example of driving the highway with twins every few miles, the “intergenic” region would be the space between the twin girls (who represent your genes).  If you are looking this up on your raw data from 23andMe, it is rs10427255  (C or T).

Sneeze when you eat or right after? Sometimes I do. Filling up your tummy too much is another example of a stimulus that triggers uncontrollable sneezing and it’s tied to a gene. I can’t find the exact gene yet (if you do, please put it in the thread below my article). The phenomena is called “snatiation” and that’s the combination of sneeze with satiation because you sneeze when you are full (or overly full).  It can cause 3 or 4 sneezes or up to  20 sneezes during or after a meal.  It doesn’t matter what you eat, and it’s not an allergy.  It’s a genetic disposition, so thank mom and dad for it! The technical term is “gustatory rhinitis” and you can think of it as gastric sneezing. It has to do with an overstretched stomach, not a food sensitivity. Snatiation has happened to me so many times over the years that I’m convinced I have the gene, God bless me!

Unibrow?  Yep, there’s a SNP for that!

If you look at your raw data, this is the allele associated with a unibrow (or thick eyebrows) as well as brown hair: HERC2 (the allele is: rs12913832 )
Other genes involved in unibrows include: CRHR1, SLC45A2, EDA or ZNF608
Are you wondering what to do now?
And how is genetic testing done?

I’m sure you’re wondering if you have any of these genes or other ones. If you’re interested in genetic testing, it’s pretty simple nowadays. I will outline the details of testing right now, but please understand it is a THREE STEP process:

1) Get your raw data from 23andMe (Raw data are the specific alleles/genes)
2) Input this raw data into another website to generate your report
3) Learn what your SNPs mean by studying them, and looking them up on SNPedia

Now more details about how to do this…

The actual genetic test is done using saliva by a specialty lab called 23andMe site.  This test currently costs $99 dollars. These kits are not sold at pharmacies or health food stores. In fact, genetic tests are highly controversial.

After the FDA got involved, genetic testing got a little jolt so to speak. So now, 23andMe offers the genetic test for you, but they do not make any attempt at interpreting your results, nor do they generate an easy-to-read report. They just provide raw data, pages and pages of what looks like computer code!

So once you get your 23andMe results (just the raw data), you need to take the raw data file and upload it to another site that is capable of generating an attractive easy-to-read report to summarize your SNPs. This costs up to 30 US dollars to generate the report.  So the grand total (currently) is $129 US dollars (99 for 23andme, and 30 for the pretty report). There are several websites that generate reports today, some are free, some are up to $30. You can use any site you like, I’d love to hear your feedback.

I recommend mthfrsupport because I am used to their site, but honestly, it is NOT the easiest site to navigate. I’m just used to working with this site and I want to make the process easy for you too. So, right now I will outline each step of the process if you choose to use their site. This will come in handy, I assure you!

10 STEPS to Getting Your Own Gene Report

Step 1: Buy your test kit from 23andMe and do your test, mail it in and wait for your results. This could take up to a month, but usually less.

Step 2: Once you receive notification that your results are complete, sign in to 23andMe using your own email and password and download your report.  Once you are logged in, you’ll see your name on the upper right,  click on your name, then “browse raw data” and a new screen appears with a bunch of numbers. Look back up to the upper right, and you will see the word “download” right beneath your name. Click that to download your data. They will ask you for your password again, as well as your mother’s maiden name. Fill this in to download your report.

**Note: If you have trouble with any of this, they have a “help” button or you can email them (I am not tech support).

Step 3: Once your report has downloaded from 23andme, save it to your computer. Do not change the file type.

Step 4: Open a new page for mthfrsupport.com and at the top right, click on “My Account” and register with them. If you don’t register first (and try to click on Sterling App) you will see a red warning at the bottom asking you to be logged in. This is for your privacy and security so again, when you go to the site, you must first register with them by clicking on “My Account” at the top right. Only then can you use the Sterling App. By the way, this app is named after a real person name Sterling Hill who was a highly successful businesswoman for many years until she became ill with clotting issues. She went from physician to physician but her condition progressively deteriorated. She lost everything at one point. She ultimately recovered by addressing her methylation and other SNP concerns. Today, she is the CEO and founder of the site that offers this report generator, and she is brilliant as are her colleagues, Shawn Bean and Jess Armine DC.

Step 5: Once registered with mthfrsupport (or if you are a returning user) just hover your mouse over “Sterling’s App” which appears at the top of their toolbar on the home page. When you hover over that, you can click on “Order reports”

Step 6: After clicking on “Order reports” you will see a new page. You will click on the blue bar that says “Upload my genome file.”  Click on that, and find it on your computer, usually the desktop.  It will take a few minutes to upload your file, be patient.

Step 7: Once the file appears below the blue and gray bar, you will see it. It will look something like this: genome_suzy_cohen_full8828188118.zip
(That is an example, don’t go trying to upload my genes now!)

Step 8: Select your file by clicking on it (the file turns grayish blue) and then, click on the gray bar above the genome file that says, “Generate Report from Selected File”

Step 8: You will be redirected to a new screen that says “You have 1 item in your cart” and it lists MTHFR Variant Report. It asks you to pay $30 and checkout. You’ll have to pay that in order to get your report.

Step 9: Once paid, you will have to wait for their site to email you a receipt, which usually takes just a few minutes. I got mine in under 8 minutes. It allows you to click on a direct link to see your colorful report, and it also allows you to log in to their site and access it in the future.

Step 10: Save your report to your own computer as a PDF so you can email it to physicians, friends or mom and dad with a ‘thank you’ note 😉

Summary
If you have a difficult health challenge, or complex chronic illness you should test your genes. You can do this using a saliva test or go through any lab you like, some require blood. You can generate a nice report using various websites, but having done a lot of these myself, I am confident the most comprehensive report available today is generated with the Sterling App (instructions above).  You can learn what SNPs you have that are contributing to your illness, which then allows you to research vitamins and minerals and medications that might help upregulate or downregulate a particular pathway.  You will need a physician or practitioner to guide you with all of this, and it is really very pioneering.

Because it is emerging medicine, there are not a lot of people who know about this. Let’s stick together and be helpful to each other. Keep comments short and general please, and write below in the thread that I have now opened so we can communicate with one another. Some of the links used within my article today go through my affiliate link, so if you go through me, I make a few dollars, lol, perhaps enough to buy a few bottles of 5-MTHF because I refuse to buy folic acid!

I look forward to reading your comments in the section below, please remember, I am not your physician and cannot advise you on what to take, or what to do in terms of treatment for your SNPs. I’m just here to educate you and chat in general terms. Thanks!

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227 Responses to Genes, Methylation and Your Health

  1. Ken March 25, 2016 at 6:31 pm #

    Hi Suzy,

    Thank you for the great article above. Toward the end of your article your mention that “genetic tests are highly controversial”. I have had a gene test done and have five SNP’s. My ND doctor told me that the testing is more accurate for some SNP’s than others, which makes me wonder how accurate the results were for my particular SNP’s and just how helpful the things I’m doing for them are.

    Thank you!

  2. Jennifer PG March 22, 2016 at 8:35 pm #

    I had the GeneSight test done and it said I had the MTHFR heterozygous for C677T, the reduced folic acid conversion, with moderately increased homocysteine levels. I have high anxiety, neuropothy in my hands and feet with foot cramping, always cold, arthritis in hands, extreme lethargy. I am not sure if I should take the folate…if it would help my symptoms.

  3. Susan Sentilles March 15, 2016 at 12:00 am #

    I looked today and 23andme costs $199. Unless I’m mistaken. AncestryDNA costs $99. Is that one as good?

  4. Sarah March 14, 2016 at 12:15 pm #

    Thanks for a great article. I’m particularly interested in the possible link between PON1, homocysteine thiolactone, and seizures. Also PON1 and sensitivity to medicines. I did some googling and found supportive research in mice. I was wondering whether you were aware of any research in humans that might urge my doctor to take a look. Thanks in advance.

    • Suzy Cohen April 1, 2016 at 2:48 am #

      You should buy a copy of audio of my Medication Induced SNPs and/or my Keyring SNPs.
      I discuss PON1 in the audio/presentation. It’s sold here either by themselves, or as a combination, doctors love this, scroll down: http://shop.suzycohen.com/collections/all

  5. Michelle August 28, 2015 at 4:36 am #

    Is there a SNP for low ferritin and zinc? No matter what I try I simply cannot get my ferritin and zinc up.

    • Suzy Cohen August 28, 2015 at 11:26 pm #

      What kind of zinc did they measure, serum or RBC, that makes a difference.
      Low iron and low zinc will make you feel ‘thyroid sick’ so please read my Thyroid Healthy book 🙂
      Coffee binds up those in case you’re a heavy coffee drinker (or black tea).
      It could be infection related, it’s probably not SNP related.
      If it’s low TISSUE zinc (as in RBC) and NOT serum zinc then that could be yeast or fungus or Candida, etc.

  6. Todd August 27, 2015 at 12:59 pm #

    My question us related to psoriasis and psoriatic arthritis. For years I have been suffering. I started a support group that is flourishing. Many people have questions. My question to you is with this research do you think that one we will have a cure or maybe a vaccine? Psoriasis is the most prevalent autoimmune disease affecting 7.5 million Americans. It’s also the most misunderstood because it’s visual. We have Hollywood to blame for portraying the villains with skin ailments. Our group is http://www.facebook.com/groups/psowhat

  7. Pam August 24, 2015 at 4:15 pm #

    I have the MTHFR gene mutation but unfortunately haven’t been told which variant yet (C677T or A1298C). My Psych gave me samples of Deplin 15mg to try. It seems to make a difference but I do tend to have “up” better day and then next day may wane. What is your opinion on mega high doses of L-methylfolate in lieu of OTC good quality B-Complex and B-12 supplement? Also I have some concern if Mega doses could cause other side effects if I am not absorbing properly. Psych told me I couldn’t take enough B-Complex supplements or eat enough leafy greens to help with the MTHFR issue. Not sure how he would knows this since I don’t even know when variant I have. When I asked I was told, “That’s getting out in the weeds.”, as if to dismiss my question. Deplin is extremely expensive so even though I am feeling some significant benefit, although up and down, there is no way I could afford $100+ per month for this “Rx food” that is not covered by insurance. Thank you, in advance, for any direction you could give me.

    • Suzy Cohen August 25, 2015 at 5:00 pm #

      Mega high doses of LMF are bad. I am not in agreement with that.
      It will deplete all your other Bs.
      Go visit mthfr.net and put “methylation” in my search box please and read my other articles.

  8. Bev August 20, 2015 at 2:18 pm #

    Thank you Suzy;
    The quality probiotics might be my missing link to health.
    I am Type 2(on glucotrol), MTHFR C677, with high A!C, hyporthyroid, inflammation, and high homosystein.
    I need to order a SNPs report.
    The site offers different Probiotics: Professional, Detox, Heart and Energy.

  9. Ann August 15, 2015 at 1:56 am #

    My 16 year old son had his colon removed (J-pouch) in 2012. Sudden onset and diagnosis IBD-UC. He struggles to keep weight on. I give him probiotics, Metabolic Mtc. Multi, Emergen-C, fish oil, Coq10 and CuraMed (curcumin). Which type of probiotic is safe for him? Doctors won’t answer this. They told me Culturelle, which is what I use but wonder if something else might help him stay out of bathroom so much!

    Puzzled mom thanks you!

    • Suzy Cohen August 15, 2015 at 5:23 am #

      Hi Ann
      The probiotic matters, but the organism that has caused the “sudden onset” is important to know, so you can eradicate it. People who can’t keep weight on often have parasitic infections, the parasites eat all the nutrients so the human can’t assimilate the nutrients (they lose weight). Make sense? Have him tested for SIBO (it’s a breath test) and also do a stool test called GI Effects (link for this latter test:
      GI Effects Gastrointestinal Function Comprehensive Profile (One day collection)-METAMETRIX KIT https://www.directlabs.com/suzycohen/OrderTests/tabid/23601/language/en-US/Default.aspx)

  10. Christine August 11, 2015 at 7:36 pm #

    Thank you very much for your article on Babesia. I have been suffering with similar symptoms for years and your article pushed me to get tested and sure enough I have babesia. I was diagnosed with lyme 5 years ago and was treated with antibiotics for 3 months and thought I was better. However, the air hunger has grown increasingly worse and am still testing positive of lyme as well. I know the treatment ahead of me is not going to be easy. Any suggestions?

    • Suzy Cohen August 12, 2015 at 3:13 am #

      Just don’t give up hope, Babesia is more straightforward than Lyme actually, it doesn’t morph and change forms. Keep your immune system strong by eating well and build a support system with good friends and family who believe. Who care.

  11. Sandra Bales July 30, 2015 at 1:13 pm #

    Hi Suzy…I am a retired pediatrician with a passion for learning more about epigenetics. I have a 23andme sample cooking and am so grateful for the information in your article!

    • Suzy Cohen August 1, 2015 at 5:01 am #

      Nice to meet you Dr. Bales, 23andme… it’s like a giant puzzle for our body! I will be writing more on that in the future.

  12. Will July 25, 2015 at 5:35 pm #

    Hi Suzy – Great website! It’s obvious you’re passionate about health and natural medicine, and approach learning/new ideas with a strong sense of natural curiosity. Very refreshing.

    Question – I was able to download my AncestryDNA raw data but many of the sites that create custom gene reports seem to be 23andme centric. Do you have any thoughts on reputable websites to create custom genome reports based on AncestryDNA data?

    Thanks!

  13. Marina July 21, 2015 at 9:06 am #

    Hi Suzy,

    Where can I find more on the PON1 SNP? Could you recommend a web site and/or book?

    Thanks!

    • Suzy Cohen July 22, 2015 at 4:22 am #

      Look on pubmed.org and snpedia

  14. Jennifer July 17, 2015 at 2:42 am #

    Hi Suzy ~
    I am heterogenous for a couple of MTHFR genes, and homozygous for PEMT and SOD2.

    My doctor recommended a B complex with methylfolate and B12, and also choline for the PEMT gene. However, she didn’t recommend SOD. I am a bit worried, as some websites say the chance of side effects from methlyfolate are increased for people with the SOD2 gene.

    I am on Co-enzyme Q 10. Can this take the place of SOD? Or should I consider supplementing with it as well?

    Thanks

    Jennifer

    • Suzy Cohen July 18, 2015 at 1:26 am #

      CoQ10 intake doesn’t affect SOD gene or SOD levels in any way to my knowledge.

      • Jennifer July 18, 2015 at 3:06 am #

        Should I consider supplementing with SOD then? If so – what brand – and what dose?

        Thanks

        • Suzy Cohen July 19, 2015 at 6:00 am #

          Hi Jennifer
          Not 100% sure what’s right for you; I supplement but I know it’s right for me through trial and error. I take breaks for no particular reason but go back on every few months. You just have to try. I have tried 3 or 4 different brands, one per day (whatever the dose is on the label) and I do not have a favorite they have all been fine/tolerated. If you prefer to get the highest dose of SOD, it comes from freshly pressed wheat grass shots! I do this sometimes myself but don’t like the taste honestly, I just do it to get a quick shot, so again not sure of the dose, just one shot at the juice bar. Does this help?

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