Fact check: MTHFR gene is not linked to physical indicators or vaccine response

Miriam Fauzia and McKenzie Sadeghi, USA TODAY
·9 min read

The claim: MTHFR gene has telltale signs, and those with it cannot 'detox the toxins from the vaccines'

A mole above the lip or high on the cheek is often seen as a sign of beauty, but some birthmarks, a Facebook post alleges, may indicate more harm than good.

"MTHFR INDICATORS" reads a gallery of images depicting children, each with three different categories of congenital markings. Red circular patches of skin, featured predominantly on the head and neck, are characterized as "stork bites," a visible "blue vein" on the nasal bridge is a "sugar bug," and small indentations near the "butt crack" are sacral dimples.

The accompanying text warns these three are signs of the MTHFR gene, and anyone with a faulty version of it will experience a host of debilitating diseases after vaccination.

“When people have MTHFR their chances of vaccine reactions increase because they cannot detox the toxins from the vaccines,” reads the post, which originally was shared in 2018 but recently resurfaced. “When you give Tylenol it decreases the glutathione levels in the body which is essential to detoxification. So imagine what happens when you give someone who already has problems detoxing a medication that inhibits detoxification ...”

The post has received more than 39,000 re-shares on Facebook and has even made its way to Twitter.

Facebook users in the comments took to expressing their appreciation for the post and their own personal stories with MTHFR.

"Wow very good to know. Myself and 3 of my 4 kids had this!!" one commentator wrote a year ago.

"Doctors should be testing to see if babies have these genes but they are not," said another in June.

Joya Noel, the Facebook user who shared the post, told USA TODAY via Facebook Messenger that she obtained her information from Ben Lynch, a naturopathic medicine practitioner, and chiropractor Andrew Rostenberg; Noel provided references to their websites.

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What is MTHFR?

Enzymes – biological molecules that speed up chemical reactions within cells – are key players in the human body. One such enzyme, methylenetetrahydrofolate reductase, encoded by the MTHFR gene, is critical for converting one type of folate (also known as folic acid or vitamin B9) into another type of folate commonly found in blood.

The conversion provides the body with much-needed amino acids, the building blocks of proteins. This enzyme also helps transform homocysteine, an amino acid naturally produced by the body, into a more usable form.

Just as human beings come in different shapes and colors, genes encoding the same enzyme also vary. For the MTHFR gene, its two prevailing variants, C677T and A1298C, generally have no effect on health.

“Gene variants are common and normal. In fact there are more people in the United States who have one or two copies of the MTHR C677T variant than people who do not have it,” the CDC says on its website.

Personal genomics company 23andMe also agreed, adding that "when the MTHFR gene has either of these two variants, the resulting MTHFR enzyme is slightly less active, and this can lead to decreased levels of folate and increased levels of homocysteine in the blood."

Increased levels of homocysteine, in these rare genetic cases, can lead to blood clots, arterial damage in blood vessels and, ultimately, cardiovascular disease. However, the two common MTHFR gene variants are not entirely responsible for increased homocysteine's deleterious effects: There are more than 135 genes involved in modulating the amino acid, and conditions such as poor nutrition, alcoholism and low oxygen may also contribute.

There are two variants of MTHFR: C677T, which 30%-40% of the American population may have, and A1298C, which has limited research, according to Healthline.

What are signs of MTHFR?

Sacral dimples, "stork bites" and "sugar bugs" are not MTHFR variant indicators, said Dr. Sean O'Leary, vice chair of the American Academy of Pedatrics' Committee on Infectious Disease, in a September interview with Reuters.

Named after the "delivery stork" myth, "stork bites" are present among one-third of all newborns but tend to fade out over time, according to the Johns Hopkins Medicine website.

Appearance of a thin blue line on the nose or between the eyes – a "sugar bug" – is completely normal. The blue line is the dorsal nasal vein, which all humans have, but for those with lighter or thinner skin it is more noticeable.

According to the Mayo and Cleveland Clinic, a sacral dimple is generally harmless and does not cause any health problems or require further treatment. The congenital mark has no known underlying causes, but if it's accompanied by a "tuft of hair, skin tag or certain types of skin discoloration," the Mayo Clinic suggests a sacral dimple may indicate a serious spine or spinal cord abnormality.

Dr. Vincent Iannelli, a pediatrician and fellow of the American Academy of Pediatrics, wrote in his 2018 blog that parents get concerned MTHFR is related to their child's "stork bite", sacral dimple, "sugar bug" or any other common condition present at birth.

"Not surprisingly, none of the websites who list so-called signs of MTHFR mutations provide any evidence for why they are considered to be signs," Iannelli wrote.

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Dr. Justin Smith, a pediatrician and medical adviser for Digital Health for Cook Children's in Texas, also found that no studies exist linking the physical findings listed in the Facebook post and MTHFR mutations.

MTHFR gene does not cause vaccine reaction

The claim that those with the MTHFR gene can have adverse reactions to vaccines is derived from a single 2008 study published in the Journal of Infectious Diseases. Experts, however, have stated throughout the years that there is no peer-reviewed evidence suggesting children with the MTHFR gene are at risk from being vaccinated.

The 2008 study explored the risk of effects from an experimental vaccine against smallpox. Researchers concluded that 24 out of 46 participants had local inflammation, fever, rashes and lymph node swelling but did not find any severe or long-term effects.

However, in 2019, the authors of the study wrote a letter stating that their research was being misinterpreted and that the study should not be used as evidence to link the MTHFR gene and vaccines.

"In conclusion, the invalid interpretation that the determination of the MTHFR variant is an acceptable reason for vaccine exemptions is not based on the precepts of replication and rigorous clinical testing. It is unfortunate that the loose application of our exploratory report has been misinterpreted and used to inappropriately justify exemption of children from medically indicated vaccines," the letter reads.

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Experts warn against MTHFR testing

The American College of Medical Genetics guidelines state that MTHFR testing should not be used to determine diseases.

Dr. Myra Wick, a medical geneticist and gynecologist at the Mayo Clinic, told USA TODAY via email that the American College of Obstetricians and Gynecologists does not recommend MTHFR testing and that the gene is incorrectly blamed for many things.

Debra Doyle, genetics coordinator for Washington State Department of Health, told Forbes in a 2016 interview that any associations revealed during MTHFR testing is not conclusive evidence.

"“(MTHFR) variants are so prevalent, and folate metabolism associated with so many aspects of human metabolism, that these correlations are often spurious,” Doyle said in the same interview.

The Washington Post reported that half a dozen medical specialists contacted said MTHFR testing "doesn't reveal actionable information and that while there may be occasional rare exceptions, it should not be done."

Our rating: False

We rate this claim FALSE, as it is not supported by our research. There is no evidence that a "stork bite," blue vein on the nose or sacral dimples are indicators of the MTHFR gene. Many experts have stated that there is no connection between a vaccine reaction and MTHFR and no studies exist to support this claim. Experts do not recommend MTHFR testing.

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This article originally appeared on USA TODAY: Fact check: MTHFR gene not linked to physical marks, vaccine response

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