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Do I have an MTHFR “Mutation?” Here’s How to Find Out

Of all the genes in the world of nutrigenomics, MTHFR is probably the best known. If you’re wondering whether you “have MTHFR,” you needn’t. Everyone has MTHFR genes, it’s just that some of us carry variants that reduce the function of the gene’s activity. When people want to test for MTHFR, this is what they are looking for – genetic variants.

But before we dive into how to find your MTHFR status, first a caveat on the state of the scientific research – many of the conversations surrounding MTHFR are speculative at best. Some of the conditions blamed on MTHFR mutations are not scientifically proven. Some others, such as the link between certain MTHFR variants and heart disease in the Black community deserve more attention.

Although MTHFR variants are common in certain ethnicities, and less common in others, it is our view that testing is worthwhile. The current blogosphere message that MTHFR variants are common and therefore not worth thinking about lack inclusivity. The reality is that the impact of these variants can change when we factor in underrepresented populations, and even in communities where the variants are more prevalent they can be used as part of a personalized approach to nutrition. Failure to test especially leaves homozygous carriers in the dark, which in our view is an unacceptable omission.

If you want a clear picture of where we think things stand with MTHFR research, have a listen to the podcast episode we did recently on the latest science on MTHFR.

MTHFR debate ignores the Black community and people of color

You may have read certain blog posts dismissing MTHFR testing as unnecessary.

While recognizing that many of the health issues blamed on MTHFR are overstated, or just plain unfounded, we disagree as to the wisdom of a test. One of our passions at Gene Food is cardiovascular health and there is evidence that understanding MTHFR variants has a role to play in curbing our nation’s number one killer – heart disease.

And yet, this 23andme blog post concludes that MTHFR variants have virtually no health impact. Readers should also be aware of the CDC’s position, which is similar to that of 23andme.

However, missing from the 23andme blog is a meta-analyses of 47 studies published in the International Journal of Cardiology in 2016 that found a 63% increase in heart attack risk for African populations with the T allele for rs1801133. This is a classic example of how people of color are often underrepresented in blog style summaries of clinical research. For more, see: The MTHFR Gene: The Health Impact for the Black Community.

It is our hope that highlighting the different ways MTHFR affects ethnic sub-groups in this post, and throughout this site, will help change the conversation and empower these communities with actionable personalized health information.

DNA test kits that include MTHFR variants

Below are the top 4 DNA test kits that test for MTHFR variants:

  1. Boston Heart Diagnostics
  2. 23andme
  3. Ancestry
  4. Gene Food

MTHFR for 23andme users

If you have already purchased a 23andme test kit, you can login to see your MTHFR status. Happily, this is a task that has gotten a lot easier as of late, but you will have had to have done some basic testing first. If you have a 23andme account, you can login and see your MTHFR status in a few simple steps.

Step #1 – login and select “browse raw data”

23andme has made it much easier to navigate to your raw data file from the dashboard of a logged in account.

Find out MTHFR

Step #2 – search MTHFR

Once you arrive at the raw data screen, you cam search genes by name and see your call for the various SNPs they report on. There are many different MTHFR genes, although we will focus on a couple that are thought to be most clinically relevant. As you can see from the screen below, I typed in MTHFR directly into the 23andme search bar.

MTHFR in 23andme interface

Step #3 – find the right version of the MTHFR gene

Once you arrive at the raw data search field for 23andme, you simply scroll down the page and find the relevant version of MTHFR. You will see numerous results with your status for each under the “Your Genotype” column.

searching 23andme for MTHFR genes

The most researched MTHFR variants are MTHFR C677T (rs1801133) and MTHFR A1298C (rs1801131). First, stop and notice how similar the rsID numbers are for these genes! Next, scroll the “Marker / SNP” column and find these variants.

Minor allele for A1298C is – C or G.

Minor allele for C677T is – T or A.

If 23andme shows one copy of the minor allele that represents a “heterozygous” mutation. If two copies, that is a homozygous mutation. Here you can see Here, you can see my call for MTHFR C677T is G/G, meaning I do not carry a risk allele.

MTHFR

Other options

We have a blog post on our site detailing the various sites that process 23andme raw data.

Although it doesn’t weigh heavily in our analysis, MTHFR is also one of the genes we report on in the methylation section of our custom nutrition plans.

Dr. Aaron Gardner, BSc, MRes, PhD

Dr. Aaron Gardner, BSc, MRes, PhD is a life-scientist with a strong background in genetics and medical research, and the developing fields of personalized medicine and nutrition. Read his full bio here.

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15 Comments

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  1. Tricia says:

    I had some test ran and it came back as Gene MTHFR Genotype C/C (C677T); A/C (A1298C)
    I am having a hard time finding out exactly what this means. Do I have two mutated Genotypes?
    My vitamin B12 is on the low side and I am currently getting weekly injections for four weeks and then will got to once a month, due to the fact that I tried to take sublingual form and it sent me into a heightened anxiety.

  2. Denise says:

    So, to clarify what does the +/- result mean?

    Does that mean you have the gene or that you are a carrier? My report came back for both and they were A/G and G/T

  3. Aubrey franklin says:

    My sister has both copies of the mthfr gene and I would like to know if I have the same mutations. I would like to order the 23 and me but I’m confused whether I should order the $99 version or the $199 version if I just need to raw data to find out about the mthfr genes. Please help!

  4. Rosemary says:

    Thanks for the article. I am homozygous for 1298C and have sent in my 23andme sample to find out any other SNPs I might need to know about.

    Do you know anyone in Austin who is good at interpreting 23andme genetic data? Any other sites through which it would be good to upload the data?

    Rosemary
    Austin

    • Rosemary, Livewello is a valuable platform for interpreting genetic data in our opinion. If you’re looking for help with nutritional advice, we can assist with that, if you’re looking for medical diagnostics, I don’t know of a place in Austin that I’d recommend. There are some functional medicine docs who claim to be able to interpret genetic data, but I think the medical community is a ways away from coherent and reliable analysis.

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