What Are Gene Variations?

what are gene variations

Lets first look at what DNA actually is.

DNA is composed of four chemicals: cytosine, guanine, thymine, and adenine.  Our cells are made up of DNA, which is chromosomes all strung together.  We get our chromosomes from our parents, thank you, Mom and Dad, for all 23 pairs each!

According to Genetics Home Reference, a gene mutation is a permanent alteration in the DNA sequence that makes up a gene, such that the sequence differs from what is found in most people.  Mutations range in size and can affect anywhere from a single DNA building block to a large segment of of a chromosome that includes multiple genes.

Most disease-causing gene mutations are uncommon in the general population and amount to less than 1%. However, other genetic changes occur more frequently.  Genetic alterations that occur in more than 1 percent are called polymorphisms, frequently called SNPs, and are the most common type of genetic variation among people. According to Genetics Home Reference, SNPs occur normally throughout a person’s DNA. They occur once in every 1,000 nucleotide’s on average

What is a Polymorphism (SNP)?

Since gene mutations occur less than 1% in the general population, let’s focus on the more often occurring polymorphisms or SNPs.

According to Genetics Home Reference, Single Nucleotide polymorphisms are the most common type of genetic variation among people.  Each SNP represents a difference in a single DNA building block, called a nucleotide.

SNP’s occur normally throughout a person’s DNA and can occur almost once in every 1,000 nucleotide’s on average, which means there are about 4 to 5 million SNPs in a person’s genome! From the Encyclopedia of Neuroscience, 2009, “SNP’s represent the most abundant form of genetic variation in the human genome and contribute to many complex central nervous system phenotype’s, including responses to drugs and susceptibility to neurological and psychological disorders.” Since SNPs are hereditary and shared by individuals of common descent, they can also be used as a way to track ancestry.

How do I know if I have any genetic polymorphisms/SNPs?

There are several tests that can be run using your 23 and Me results or ancestery.com. Genetics is a complicated issue and the research is emerging and ongoing. At lifesparknutrition.com, we can take the information from your 23andMe or Ancestry.com and run it through a well-researched program, only available to approved healthcare providers, that will highlight your genes with your SNPs. This program provides the most researched available SNPs, along with the ones which will have nutritional or lifestyle recommendations.

Polymorphism snp genes

At lifesparknutrition.com, we are able to use this unique program to run your genetics and test, translate and target SNPs.

The results are complicated and maybe a bit scary if you aren’t sure what the results mean so we recommend having a phone consult to discuss! At LifeSpark Nutrition, we offer a basic package, with just the results of SNPs you individually have, or for peace of mind, our Dietetics and Integrative Medicine BSN, will read your results and provide a 1-hour phone consult plus a written plan just for you! If you haven’t done a DNA profile like 23AndMe, we also offer several nutritional consult packages to target specific issues, goals and personalize a lifestyle plan.

Which 5 Gene SNPs should I look out for?

Reliable SNPs could serve as predictive markers that inform our decisions about many aspects of medical care or lifestyle, including specific diseases, the effectiveness of varying drugs, adverse reactions to specific drugs, whether we process caffeine or even why some people don’t know they are full after a meal!  Keep in mind, just because you have some SNPs, (we all do), it doesn’t mean you will have an adverse reaction to a drug or develop the disease, it just means that could be at risk.


This is probably the most studied SNP because it balances methylation and is maintained by several different nutrients and enzymes. According to Thomas G. Guilliams, Ph.D., MTHFR encodes the enzyme methylenetrahydro-folate redutase (MTHFR) needed to synthesize the active form of folate. Very complicated!  So even more complicated, deficiencies in the MTHFR activity, lead to reduced cellular availability of 5-MTHFR, which results in elevated serum or urine homocysteine levels. Methylation is involved in many different roles including neurotransmission, hormone detoxification, amino acid metabolism, vitamin assimilation,cell membrane structure, gene regulation, and homocysteine clearance! That’s a lot of functions if you are not methylating properly! So if you have elevated a homocysteine level, check to see if you have a SNP or two of MTHFR!


According to the Genetics Home Reference, APOE gene provides instruction for making a protein called apolipoprotein E.  This protein combines with fats (lipids) in the body to form molecules called lipoproteins, which are responsible for packaging cholesterol and other fats and carrying them through the bloodstream.  Maintaining normal levels of cholesterol is essential for the prevention of disorders that affect the heart and blood vessels, including heart attack and stroke.

Yikes!  Wouldn’t you want to change your lifestyle and nutrition if you knew you had one of the higher risk APOE SNPs?


Do you or someone in your family have alcohol addition or the inability to stop drinking after starting?  Well if this sounds like you or someone you know, you could possibly have a polymorphism of the COMT gene.  According to the Genetics Home Reference, the COMT gene provides instructions for making an enzyme called catechol-O-methyltransferase, which helps break down certain chemical messengers called neurotransmitters. These chemicals conduct signals from one nerve to another and are important for personality, planning, inhibition of behaviors, abstract thinking, emotion, and short term memory.

If you know you have this SNP it would be wise to curtail your alcohol use, opioid use or even addictive behaviors like gambling.

DRD2 Gene

This gene encodes the D2 subtype of the dopamine receptor and according to Wikipedia, dopamine receptors are implicated in many neurological processes, including motivation, pleasure, cognition, memory, learning and fine motor control. The DRD2 SNP is then associated with lower dopamine receptor activity and increased reward-seeking behaviors. Again, if you knew you had this SNP, you may be prone to reward-seeking behaviors!

APOA2 Gene

Do you ever wonder why some people can eat chocolate desserts and never gain weight? Or why some people eat one bite of that dessert and gain weight?  This could be a result of having the APOA2 SNP. This variant decreases high-density lipoprotein (HDL) and has been associated with increased BMI (body mass index) and increased visceral fat.  The studies that looked at the interaction of APOA2 with a variety of diets found that there was an increased risk for obesity with a higher saturated fat diet. This is a tough polyporphism to have for those of us who love our chocolates and saturated fats!

Gene Variations and Your Health

Keep in mind that there is a difference between a gene mutation, which occurs in less than 1% of the population and gene variations, such as those variations listed above.  Knowing some of your polymorphisms can lead you to the right nutritional lifestyle that is correct for you! That being said, having a better insight into whether you process synthetic folic acids or you aren’t able to break down saturated fats or you have reward-seeking SNPs can lead you in a better lifestyle direction and even reduce the risk of pulling the trigger on diabetes, heart disease or possibly dementia!

Run your genetic SNP’s and see what would be the best-personalized lifestyle for you!


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