Here Are 9 Genes That Play A Major Role In Your Health

Here Are 9 Genes That Play A Major Role In Your Health Hero Image
Photo: Meg Pinsonneault

There's no arguing that your mood, weight, metabolism, immune system, hormone, and overall health are—at least to some degree—influenced by your DNA. The growing awareness that our genetics play a role in our health has created a multibillion-dollar industry of direct-to-consumer genetic testing. In fact, all you need is around $100 and you can learn a ton about your DNA and your ancestry, identify distant cousins around the world, and figure out what percentage Neanderthal you are. I mean, who doesn't want to know that?

What does it mean to get your DNA tested?

As a functional medicine practitioner, I'm more concerned with exactly what role your genetics play in the health problems you have today and how your DNA increases your risk factors for certain illnesses. So are these DNA tests worth your time and money or is it just another health fad? Let's go over everything you need to know. First, here are two of the major tests:

1. 23andMe:

23andMe has two test options at this point. You can find out your ancestry and health information—or just your ancestry for a lower price. The ancestry portion of the report shows a map and percentages of where your DNA originated from and chat options to talk to distant relatives. The health report includes dozens of reports that tell you if are likely to have certain physical traits and other reports covering any increased risk factors for chronic health problems.

2. Ancestry DNA:

As its name implies, this DNA test is all about your genealogy. Like 23andMe, you can know the percent breakdown of where your DNA is from, but the Ancestry test has a cool family tree option for us history nerds but gives no health information.

What can these tests (really) tell you?

OK, so these gene tests may tell you if you are likely to have curly hair, increased risk factor for certain health conditions, or that you are part Croatian, but how can you use this information to optimize your health? I knew you would ask that! In functional medicine, my job is to take that obscure genetic information and practically apply it to your life. You can't change your genes, but there is so much you can do, when you know your genetics, to mitigate your risk factors and feel your best. Here are the genes I always look at:


1. AHCY:

This an enzyme that breaks down the amino methionine by converting S-adenosylhomocysteinase into the pro-inflammatory homocysteine. People with a double mutation are more prone to have mood issues and typically do well with SAMe supplementation.

2. BHMT:

This gene instructs the enzyme that is responsible for methionine, an amino acid building block that is responsible in the choline oxidation processes, which is needed for optimal brain function. Brain issues like ADHD are associated with a change in this gene.

3. CBS:

Not the television network; instead, this is the acronym for the enzyme responsible for making the amino acid cystathionine. People with this mutation will produce more sulfur end products and oftentimes need to limit eating sulfur-rich foods like dairy, eggs, dried fruits, and legumes, as they will elevate ammonia levels, which can exacerbate their health problems. Other genes like NOS and SUOX can further cause this excess of sulfur and are associated with immune issues like asthma.

4. COMT:

This gene plays a pivotal role in making the balance of neurotransmitters and a healthy brain. A double gene COMT gene change is linked with an increased risk factor for ADHD, anxiety, bipolar, and obsessive-compulsive disorders.

5. MAO:

MAO's role is to clear out neurotransmitters such as serotonin. Changes to this gene can lead to neurotransmitter imbalances linked with depression and anxiety. People with MAO mutations as well as MTHFR have a higher rate of histamine intolerance. This can cause inflammation response when they eat even healthy stuff like fermented foods (sauerkraut, kimchi), bone broth, nuts, vinegar, and wine.


One of the key ways I use the DNA information from these labs is to assess something called methylation. Methylation is a big biochemical super freeway system that makes your hormones, gut, brain, and detox pathways uber healthy. It happens about a billion times every second, so if methylation isn't functioning well, neither are you. Because most of my patients are going through varying degrees of hormonal, digestive, brain, and autoimmune issues, how they are methylating is important to me. Methylation gene changes or polymorphisms can help me customize my treatment plans.

MTHFR is not an acronym for an expletive; it's the enzyme that converts folic acid into folate. Folate is a methyl-donor that acts like gasoline to make methylation happen. MTHFR is probably the most famous of all these polymorphisms—the Beyoncé of methylation, if you will. There are two important MTHFR mutations: A1298C and C677T. Gene changes to C677T can cause higher levels of the inflammatory homocysteine and A1298C plays an integral role in neurotransmitter function, and double mutations are linked to mood dysregulation and addictive behavior. Both of these are linked to autism and autoimmune conditions like autoimmune thyroid issues.


These little guys are needed for B12 production, another methyl donor. People with mutations in this gene typically need higher doses of B12 because their body is using it up faster than they are producing it. I also often find that people with this gene change are low in lithium. Lithium is needed for mood balance and is linked with aggression and other mood disorders. By testing blood and hair lithium levels, we are able to see if this is an issue or not.

8. VDR:

VDR stands for vitamin D receptor. As I've written about in the past, vitamin D is super important. Responsible for over 200 different pathways to keep you healthy, VDR gene mutations make your body really bad at absorbing vitamin D. Because of this, people with VDR changes typically require higher and consistent vitamin D supplementation.

9. Detox genes:

Other gene changes that I look at are some of your detox genes such as CYP1A2, which lets me know how well you tolerate caffeine and whether or not you can get the health benefits from coffee and tea.

Is your DNA your destiny?

OK, so now you know all this cool gene-health information, but are genes everything? Heck no! Research estimates that on average, about 90 percent of how long we live is due to the choices we make in our life, not our genes. The old view of genetics was that it was an immutable force, that if your family had a certain health problem, it would be just a matter of time before you got the same disease. Today, science takes into consideration the field of epigenetics—also known as the environmental factors that affect your DNA expression. Many of our bad and good genes are turned on and off by the world around us and the choices we make in life.

One Stanford study estimated that 77 percent of the immune system was determined by things we can control! The foods we eat or don’t eat, toxins, exposure to germs, stress levels, and medications are the determinants of the majority of our health. Since we are all different, knowing your genes is one way to know what's best for your body so that you can support those gene weaknesses and truly thrive.