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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.
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.
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.
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.
In a study conducted on the South Asian population, men with the T variant were significantly associated with male infertility.
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.
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.
| CHIP Version | MTHFR SNPs |
| 23andMe (Use your 23andme raw data to know your MTHFR Variant) | |
| v1 23andme | Present |
| v2 23andme | Present |
| v3 23andme | Present |
| v4 23andme | Present |
| V5 23andme (current chip) | Present |
| AncestryDNA (Use your ancestry DNA raw data to know your MTHFR Variant) | |
| v1 ancestry DNA | Present |
| V2 ancestry DNA (current chip) | Present |
| Family Tree DNA (Use your FTDNA raw data to know your MTHFR Variant) | |
| OmniExpress microarray chip | Present |
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.
People with the T variant of the gene were associated with non-response to methotrexate in the treatment for rheumatoid arthritis.
| Genotype rs1801133 | Phenotype | Recommendation |
| 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 |
| CT | Moderate level of MTHFR enzyme | Include 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. |
“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.”
