Know Your Genes: GC – “Vitamin D Gene”
April 17, 2017
Know Your Genes: DRD2 “Dopamine Gene”
April 19, 2017

Know Your Genes: MTHFR “Folic Acid Gene”

Hyperhomocysteinemia
Folate Deficiency
Neural Tube Defects
Cardiovascular Disease Risk

The Methyl Tetra Hydrofolate Reductase gene (MTHFR) is associated with the synthesis of 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 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 is 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 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 T variant of the gene and an increased risk for rheumatoid arthritis.

Association with ADHD:

In a study conducted on 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

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 everyday
  • 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 yoghurt
CT

Moderate level of MTHFR enzyme

  • Include recommended daily intake (RDI) of folate and riboflavin in the diet.
CC

[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)

 


References
:

  1. https://www.ncbi.nlm.nih.gov/pubmed/25005003
  2. https://www.ncbi.nlm.nih.gov/pubmed/27720779
  3. https://www.ncbi.nlm.nih.gov/pubmed/27824246
  4. http://genecelltissue.com/?page=article&article_id=28421
  5. https://www.ncbi.nlm.nih.gov/pubmed/28215593
  6. https://www.ncbi.nlm.nih.gov/pubmed/28250422

 

Related Links:

  1. https://www.xcode.in/dna-and-health/cardiovascular-disease-and-mthfr-gene
  2. https://www.xcode.in/product/mthfr-gene
  3. https://www.xcode.in/dna-and-health/genes-and-greens-to-protect-your-heart

 

Find out which variation of the gene you carry and more at www.xcode.in

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.”

Amrita Surendranath
Amrita Surendranath
Amrita has a Masters in Human Genetics which fuelled her passion for genes and their diktats. She loves converting genetic research into exciting scientific news with a punch. 10 years on, her interesting insights have covered a range of topics that include cancer, diabetes, nutrition, fitness and more. A pulse on what’s interesting aids in decoding laboratory data into useful science that could empower people into molding healthier lifestyles.