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The Methyl Tetra Hydrofolate Reductase gene (MTHFR) is associated with the synthesis of the MTHFR enzyme, which converts folate obtained from the diet into an active form. The active folate is involved in the re-methylation of homocysteine to methionine. MTHFR gene variations determine how the body utilizes folate from the diet. People with the T variant of the gene are associated with lower levels of MTHFR enzyme which increases the risk for folate deficiency when there is a low intake of folate in the diet.

Association with Vitamin B9/Folate Needs:

In a study conducted on people with major depressive disorder, people with the T variant with low folate intake were shown to be associated with an increased risk of elevated plasma homocysteine levels. Elevated levels of homocysteine are found to be associated with an increased risk for depression, bipolar disorder, neural tube defects, Alzheimer’s disease, and schizophrenia. Homocysteinemia is also associated with increased oxidative stress and DNA damage, triggering apoptosis and excitotoxicity.

Association with Neural Tube Defects:

In a meta-analysis, taking into account 50 research studies on the influence of MTHFR gene on neural tube defects, the presence of maternal T variant of the gene was associated with increased risk for neural tube defects among newborns.

Association with Hypertension and Cardiovascular Disease:

People with the T variant of the gene are associated with increased risk for hypertension by 24-87% and CVD by 40%. Intake of sufficient amount of riboflavin lowered blood pressure among people with the T variant of the gene.

Association with Male Infertility:

In a study conducted on the South Asian population, men with the T variant were significantly associated with male infertility.

Association with Breast cancer:

In a meta-analysis with nearly 74,000 participants, people with the T variant of the gene were shown to be associated with an increased risk for breast cancer.

Association with Rheumatoid Arthritis:

People with the T variant of the gene were shown to be associated with higher plasma homocysteine levels with an increased risk for rheumatoid arthritis. A similar study also showed an association between the T variant of the gene and an increased risk for rheumatoid arthritis.

Does your 23andme, Ancestry DNA, FTDNA raw data have MTHFR gene variant information?

23andMe (Use your 23andme raw data to know your MTHFR Variant)
v1 23andmePresent
v2 23andmePresent
v3 23andmePresent
v4 23andmePresent
V5 23andme (current chip)Present
AncestryDNA  (Use your ancestry DNA raw data to know your MTHFR Variant)
v1 ancestry DNAPresent
V2 ancestry DNA (current chip)Present
Family Tree DNA  (Use your FTDNA raw data to know your MTHFR Variant)
OmniExpress microarray chipPresent

Association with ADHD:

In a study conducted on the Eastern Indian population, people with the T variant of the gene were shown to be associated with vitamin B12 deficiency and hyperactivity and impulsiveness.

Personalized Medicine for People with Rheumatoid Arthritis:

People with the T variant of the gene were associated with non-response to methotrexate in the treatment for rheumatoid arthritis.

Genotype rs1801133PhenotypeRecommendation
TT[Limitation] More likely to have lower MTHFR enzyme activity [Limitation] More likely to have hyperhomocysteinemia [Limitation] More likely to deliver babies with Neural tube Defects (Women) [Limitation] More Likely to have higher blood pressure and increased risk for cardiovascular disease [Limitation] More Likely to have rheumatoid arthritis [Limitation] More Likely to have ADHD [Limitation] More likely to be infertile (Male) [Limitation] Less likely to respond to Methotrexate (for treatment of rheumatoid arthritis)Include at least 400 mcg of folate in the diet every day Folate-rich foods include romano beans, white beans, lentils, asparagus, okra, green leafy vegetables Include sufficient riboflavin in the diet to lower risk for hypertension. Riboflavin-rich foods include Mushroom, spinach, lamb, milk and natural yogurt
CTModerate level of MTHFR enzymeInclude recommended daily intake (RDI) of folate and riboflavin in the diet.
CT[Advantage] More likely to have higher MTHFR enzyme [Advantage] Less likely to have hyperhomocysteinemia [Advantage] Less likely to deliver babies with Neural tube Defects (Women) [Advantage] Less Likely to have higher blood pressure and increased risk for cardiovascular disease [Advantage] Less Likely to have rheumatoid arthritis [Advantage] Less Likely to have ADHD [Advantage] Less likely to be infertile (Male) [Advantage] More likely to respond to Methotrexate (for treatment of rheumatoid arthritis)Include recommended daily intake (RDI) of folate and riboflavin in the diet.



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Nutrigenetics, fitness genetics, health genetics are all nascent but rapidly growing areas within human genetics. The information provided herein is based on preliminary scientific studies and it is to be read and understood in that context.”

Cardiovascular disease is a group of diseases that involve the heart and blood vessels. There are a number of risk factors associated with this condition, including genetic risk factors with several mutations in several genes being associated. One such important and the independent risk factor is Homocysteine.

Nearly 60% of the world’s heart disease occurs in India Indians are prone to premature coronary artery disease (CAD) with homocysteine found to be a significant independent risk factor for CAD in young patients. MTHFR gene polymorphism was found in 1/3rd of ischaemic stroke patients in India and was associated with a higher frequency of hyperhomocysteinemia compared with people without the polymorphism. Gene mutation implicated in homocysteine levels are significantly associated with CVD  in Indians C677T MTHFR mutation was strongly associated with arterial stroke, with MTHFR allele evaluation aiding in reducing morbidity due to stroke. Multiple scientific studies have established high levels of homocysteine in the Indian population- as much as 80% according to one study. Poor maternal folate rate, indicated by plasma homocysteine levels which is a highly sensitive marker of folate levels, is associated with preeclampsia, stillbirth, preterm delivery, and spontaneous delivery. 60 to 90% of adolescents in India suffer from anemia, with folate deficiency being one of the major causative factors for nutritional anemia. 22 to 52% in India have folate deficiency in India. Conditions associated with folate deficiency, like neural tube defects with a prevalence of 1 to 5 per 1000 live births, are high in India.

Folate (vitamin B9) is responsible for converting the harmful homocysteine to its useful form, methionine. Methionine is important for many essential bodily functions such as the production of DNA and RNA, cell, and tissue growth. Though dietary intake of folate is generally inadequate in India, that is not the only reason for high homocysteine levels.  Genes also play an important role.

MTHFR and Active Folate Level


Folate is present in an inactive form in the body and is converted to its active form by the enzyme Methyl Tetra hydro Folate Reductase (MTHFR). The active form of folate is necessary for the conversion of homocysteine to methionine. The gene MTHFR plays a role in the production of the MTHFR enzyme and any genetic variation in this gene could alter the level and activity of the enzyme in the body. It has been shown that the prevalence of MTHFR gene mutation is high in India, which when combined with low dietary folate intake can lead to very high levels of homocysteine and other associated conditions.

MTHFR Genotype Possibilities


Maintenance of adequate folate levels is extremely important during pregnancy, infancy, and adolescence.  Lack of methionine can lead to improper DNA synthesis and disruption in gene regulation that could lead to birth defects like neural tube defects, which are associated with folate deficiency.


Asians show a high prevalence of 677C>T polymorphism in the MTHFR gene. People with genetic variants that are at high risk for folate insufficiency should supplement their diet with rich sources of folate. Fruits and vegetables are good sources of folate, however, in India, overcooking vegetables leads to loss of folate. Fortified cereals, grains, and cornmeal are sources of folic acid, which is a synthetic form of folate. The folate from the diet will compensate for the lowered levels due to gene polymorphism.

The type of MTHFR gene has been shown to influence the Active Folate levels in blood. Want to know what type of MTHFR gene you have? Try Xcode’s nutrigenetics test which can tell you what versions of the MTHFR gene are in your DNA. You can also learn about how your genes may influence other traits, including your risk for certain diseases. Write to us at to find out more.


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There is no dearth of recommendations and advice for the healthiest diet in today’s health conscious world.Since our genes respond to the food we eat,biologists at the Norwegian University of Science and Technology (NTNU) have strived to find answers to certain questions at the molecular levels.

Do the food we eat contribute to healthy cellular processes? Are we getting the benefit of what we eat?

Their recent genetic research actually speaks for what the ‘gene’ might consider a healthy food preference, limiting the risks of lifestyle related diseases. The ideal diet must consist of: one-third protein, one- third fat, one- third carbohydrates.


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Gene expression refers to the process where information from a gene’s DNA sequence is translated into a substance, like a protein, that is used in a cell’s structure or function. A diet with 65% carbohydrates, causes a number of classes of genes to work overtime. This affects not only the genes that cause inflammation in the body, but also genes associated with development of cardiovascular disease, some cancers, dementia, type 2 diabetes and all major lifestyle-related diseases. A common dietary advice to keep genes healthy and prevent chronic diseases is one that reduces inflammatory reactions in the body and also minimizes the body’s need to secrete insulin.

Dr. Berit Johansen, a professor of biology at NTNU, says “In choosing what we eat, we choose whether we will provide our genes the weapons that cause disease”.

Be it the ‘youth gene’ or the genes that are linked to cardiovascular diseases, a new balanced diet sheet needs to be drawn keeping in mind that every meal has the right amount of fat, protein and good carbohydrates..


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Eating disorders can be caused by a mix of sociological, psychological and genetic factors. According to Johansen, “the ability to resist or otherwise, it seems, maybe built into your DNA.” Some noteworthy findings are:

On a positive note, research proves that volunteers showed positive changes within 6 days of diet- change. So remember it’s never too late to alter your food preference in spite of the genetic inclinations.



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