Genetic SNP Interpretation

In our practice, we have found that using our knowledge to address the genetic individuality and specifically the methylation cycle is very helpful in getting many patients on a path to wellness. We feel that genetic testing should not be performed randomly and out of curiosity, but instead we should address the genes where we have knowledge of their involvement with various enzymes and nutrients so that we can utilize this information to come up with a proper bypass or support for a mutation.

We utilize several labs that test for over 100 different SNP’s (single nucleotide polymorphisms) in the area of methylation, inflammation, detoxification, mitochondrial function, thyroid, clotting factors and many more. Getting these results is just a start though. We then take these findings and combine them with what we know about the patient (health history and previous blood tests and metabolic tests) so we can interpret the genetic data from which we develop the right diet, nutrients and lifestyle to fit with each person’s genetic individuality.

Want to know more about genetic SNP’s?

When we think of genetics, we generally think of the things that we cannot control or change. While it is true that we cannot change our genes, there is a lot we can do nutritionally to support our unique metabolic blueprint and bypass polymorphisms to greatly increase the efficiency of our metabolic pathways.

How is this possible?

Our metabolic pathways are driven forward by enzymes which are synthesized according to our genetic blueprint inherited from both of our parents.  When we inherit a polymorphism from one of our parents, it is called a heterozygous polymorphism and if it’s inherited from both parents, it is called a homozygous polymorphism.

Normally if there is no genetic polymorphism, enzymes should be functioning at 100%. If someone were to have a heterozygous polymorphisms for a key enzyme that would mean that this enzyme could be functioning at 70 % and a homozygous genetic polymorphism for a key enzyme would decrease its function to only 30-40%. When an enzyme is needed to convert key nutrients, 30-40% function is quite a deficiency.
Furthermore, most pathways do not work alone and influence one another and so a bottleneck in one area can affect many additional pathways and hence our overall metabolic efficiency.

What’s so interesting and exciting about all of this is that if someone were to have a homozygous genetic polymorphism in a key enzyme, there is often a way to either by-pass the enzyme if the final output is known or support it nutritionally to help to it function more efficiently.

One way to look at this would be – let’s say that you are trying to get from New York City to our office in Hoboken. You know that you can take the path train, the bus across the Lincoln Tunnel, the ferry, or you can commute by car via the Holland Tunnel. Which way would you choose? In order to make that choice, you would probably check Google maps to see which is faster. But what if there was traffic, an accident or construction blocking one of these pathways? The faster route may not actually be quicker or simpler. Wouldn’t it be great if you could know every road closure and traffic pattern so that you would be able to choose the route that would truly be the fastest and most effective? This is exactly what genetic testing can offer. By looking at the bottlenecks and glitches that occur, we can bypass them with the appropriate tools. Just like you would not take the bus if the Lincoln Tunnel was closed, we can facilitate alternate pathways if we know which ones are blocked when a genetic polymorphisms is present.

Knowing Our Genetics Can Help Us Optimize Methylation 

Methylation is the attaching of a methyl group (CH3) which consists of a carbon atom and three hydrogen atoms to another molecule.  This process happens in almost every reaction in your body and occurs trillions of times in just a matter of 10 seconds.

Efficient methylation and availability of methyl groups is essential for almost every important process in the body. Some of the main functions of methylation are:

  • Detoxification
  • Immune function
  • Maintaining DNA
  • Energy production
  • Mood balancing
  • Controlling inflammation


Faulty methylation will contribute to a myriad of health problems including:

  • Cardiovascular Disease
  • Cancer
  • Diabetes
  • Adult neurological conditions
  • Autism and other spectrum disorders
  • Chronic Fatigue Syndrome
  • Alzheimer’s disease
  • Miscarriages, fertility, and problems in pregnancy
  • Allergies, immune system, and digestive problems
  • Mood and psychiatric disorders
  • Aging


The methylation cycle centers around the MTHFR enzyme which converts folic acid to the activated form of folate to be used by the body in dozens of essential processes. This sits close to an enzyme which methylates B12 into an active form that our body can use and affects some other major enzymes that are influenced by the recycling of these nutrients.  Major pathways that sit in this methylation “hub” include the urea cycle which is important for ammonia detoxification, the methionine cycle which is important for homocysteine status but also the synthesis of SAMe which is our major methyl donor.  The transulfuration cycle metabolizes homocysteine which influences our gluthatione status, as well as our cortisol production and even our conversion of sulfites to sulfate.  The metabolism of the neurotransmitters dopamine, epinephrine through COMT and serotonin through MAO A are also influenced by this methylation “hub” of enzymes.  Knowing if there are polymorphisms in any of these enzymes can help us figure out what kind and how much support is needed. We know this sounds very complicated, but not to worry, we will not give you a pop quiz, we can help you make sense of all this with your own personal results.

Here are some examples of how knowing polymorphisms allows us to address individual needs:

There are various cases where your body may not be able to convert or manufacture specific vitamins/minerals/compounds due to a polymorphism. One example of this is with the MTHFR enzyme that we discussed above which converts folic acid to the activated form of folate. When a mutation is present, this conversion doesn’t happen and the person can become very deficient in folate. Knowing that this polymorphism exists allows us to supplement with this very specific active form of folate thereby supplying the body with what it needs irrespective of the defect.

A polymorphism in the CBS enzyme (which is quite common) can actually lead to toxic ammonia buildup and sensitivity to sulfites.  It can also affect cortisol and play a role in the stress response and energy levels. In these cases, lowering the amount of sulfur containing foods can play a huge role in how you feel.

The SOUX enzyme is used to convert sulfites into sulfates and a polymorphism there can lead to a buildup of toxic sulfites which can contribute to brain fog, fatigue and digestion issues just to name a few. One way we can help this is by supplying the mineral molybdenum because it can help enhance the function of the SOUX enzyme.

The COMT enzyme directs how you will break down neurotransmitters and hormones and also affects the type of B12 that is best for you. You may already know that methylcobalamin is generally known as the best and most active, but did you know that those with a homozygous polymorphisms of the COMT enzyme you may not be able to tolerate it and will actually feel worse from taking it?

Dr. Amy Yasko is one of the main researchers on the topic of genetic testing and the methylation cycle and she is the brains and teacher behind many of the developments and understanding that has occurred in this area.   She has worked very closely addressing the many metabolic issues of autism which has allowed her to have a tremendous insight into the functioning of this important aspect of nutritional biochemistry.  Fortunately, for all of us, we are all in need an efficient methylation cycle in order to have a body that is balanced and able to function optimally.  Much of the work that Dr. Yasko has done in the field of autism can be transferred to address those suffering from inflammation, digestive issues, autoimmune disorders, as well as allergic reactions.