MTHFR - Do you have a mutation

Do you have a MTHFR mutation? Almost certainly, the answer is yes.

The DNA analysis tool Promethease lists 12 known SNPs (Single Nucleotide Polymorphisms - known mutations). Of those, it lists the percentage of wild types (non-mutated) for each SNP. They range from 39% to 89%.

You can use those figures to calculate the proportion of people that don’t have any mutations.

The chances of having a mutation in at least one of these 10 SNPs is…

1 - (0.5 x 0.44 x 0.39 x 0.46 x 0.49 x 0.62 x 0.69 x 0.69 x 0.76 x 0.89) = 0.996

That means that a mere 4 people out of 1000 do NOT have a MTHFR mutation.

So, next time somebody says they have a MTHFR mutation you can tell them that almost everybody does.

Exactly! I don’t know why people are so invested in its importance!

I got tested and I don’t have it. Took a lot of supplements with no benefit.

I’m sorry but your math is faulty. You can’t just multiply the 10 SNP’s and say that the population minus 1 or 1000 has that many. Several of those are overlays and furthermore you have to look at the efficiency of the body’s use of what is being not properly absorbed or “detoxed”. No! Not 996 out of every 1000 people are effected by MTHFR. That is a irresponsible thing to say.


Statistics show that between 40%-50% of Americans have some sort of MTHFR dysfunction, inhibiting the methylation cycle and causing a countless variety of health conditions.

Whose statistics?

Link to a proper per-reviewed journal?

The maths is basically, fine.

Note that I don’t say that 99.6% of people show any signs of having a MTHFR mutation, just that they carry one, or more, mutations. The vast majority of all mutations have zero effect on the functioning of the relevant enzyme. Indeed, there is only one MTHFR mutation that has been shown, by reproducible, peer-reviewed studies, to have any adverse effect on MTHFR function and that’s being homozygous for the C677>T mutation.

Stein Ph. D., MPH, Tracy. A Genetic Mutation That Can Affect Mental & Physical Health. Psychology Today. (2014).

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In regards to your math, the actual math functions are not the problem. However, You are not considering the racial disparity. For example:

…between 6 and 14% of Caucasians and about 2% of those of African descent probably have a more severe (two mutated alleles) version of the mutation. In Hispanics, this number may be as high as 21%. - (Stein, 2014)

Furthermore, the complexities of the ethnic and racial variations can differ from continent to continent within one allele of an SNP:

The frequencies of the 1298C allele range from 18% to 70% in East Asia, 17% to 44% in Asia, 24% to 40% in Europe, 0% to 15% in South America and 14.7% in North America. (Amouzou, 2004)

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Just because it is ‘common’ doesn’t make it irrelevant. There are significant well-documented health issues related to the MTHFR mutation so that if those genes get turned ‘on’ you can have all kinds of health problems. Hence the need for supplements to support methylation.

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Really? Significant? Well documented?

Can you give the references to the large-scale, repeatable, peer-reviewed, studies that show the adverse effects of any MTHFR mutation other than homozygous for C677T?

Because if a study does not give repeatable results then it’s not significant.