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The Melanocortin 4 Receptor gene (MC4R) is associated with the synthesis of MC4R enzyme, a G protein coupled receptor which is found to bind to alpha melanocyte stimulating hormone. Among humans, this gene is shown to be associated with obesity.

There are two SNPs that are used in our panel, rs17782313 and rs12970134

Association with Obesity:

In a study conducted on a North Indian population, people with the C variant (rs17782313) of the gene were associated with elevated obesity risk. In another similar study, the number of people with the C variant was found to be significantly higher among obese people than among others. In the same study, people with the A variant (rs12970134) were shown to have a strong association with obesity.

Association with Physical Activity:

In a study conducted to assess physical activity, people with the C variant of the gene were found to carry out 3.5% less MET/per week when compared to people with other variants of the gene.

Association with Cardiovascular Health:

In a study, people with the C variant of the gene were shown to be associated with increased risk for nocturnal hypertension. In a similar study, people with the C variant of the gene, who had hypertension and were smokers, were shown to be associated with a higher risk for large artery stroke.

Does your 23andme, Ancestry DNA, FTDNA raw data have MC4R gene variant information?

CHIP VersionMC4R SNPs
23andMe (Use your 23andme raw data to know your MC4R Variant)
v1 23andmePresent
v2 23andmePresent
v3 23andmePresent
v4 23andmePresent
V5 23andme (current chip)Present
AncestryDNA  (Use your ancestry DNA raw data to know your MC4R Variant)
v1 ancestry DNAPresent
V2 ancestry DNA (current chip)Present
Family Tree DNA  (Use your FTDNA raw data to know your MC4R Variant)
OmniExpress microarray chipPresent

Association with Tendency to Overeat (Fatty Food Preference):

In a study conducted to determine the reward value of food, people with the C variant of the gene were shown to be associated with increased energy intake.

Association with Age and Gender:

In a study conducted to analyze the effect of MC4R gene variant on age and gender, women with the C variant of the gene were shown to be associated with a greater risk of obesity than men. People within 20-40 years were shown to be associated with obesity-related effects of the gene and there was a lower influence of the gene as age advanced.

Genotype rs17782313PhenotypeGenotype
CC[Limitation] More likely to have increased risk for obesity. [Limitation] Less likely to perform physical activity [Limitation] More Likely to have higher nocturnal blood pressure and increased risk for cardiovascular disease [Limitation] More Likely to have increased energy intake and fatty food preferencePractice mindful eating and consciously avoid increased consumption of high fatty food Associated with lower physical activity, so should consciously balance food intake with appropriate exercises. Women show a greater tendency to gain weight than men with this variant. Avoid smoking as it increases risk for stroke
CTModerate risk for obesityPractice mindful eating and consciously avoid increased consumption of high fatty food Associated with lower physical activity, so should consciously balance food intake with appropriate exercises. Women show a greater tendency to gain weight than men with this variant. Avoid smoking as it increases risk for stroke
TT[Advantage] Less likely to have increased risk for obesity. [Advantage] More likely to perform physical activity [Advantage] Less Likely to have higher blood pressure and increased risk for cardiovascular disease [Advantage] Less Likely to have increased energy intake and fatty food preferenceEnsure a healthy balance between food intake and exercises.
Genotype rs12970134PhenotypeRecommendation
AA[Limitation] More likely to have increased risk for obesity.Practice mindful eating and consciously avoid increased consumption of high fatty food
AGModerate risk for obesityPractice mindful eating and consciously avoid increased consumption of high fatty food
GG[Advantage] Less likely to have increased risk for obesity.Ensure a healthy balance between food intake and exercises.


References
:

  1. https://www.ncbi.nlm.nih.gov/pubmed/26226973
  2. https://www.ncbi.nlm.nih.gov/pubmed/26495240
  3. https://www.ncbi.nlm.nih.gov/pubmed/27213003
  4. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4816968/
  5. https://www.ncbi.nlm.nih.gov/pubmed/27701175
  6. https://www.ncbi.nlm.nih.gov/pubmed/27730429

Related Links:

  1. https://www.xcode.life/dna-and-fitness/do-you-have-the-obese-gene
  2. https://www.xcode.life/dna-and-nutrition/how-much-of-body-weight-is-determined-by-genetics
  3. https://www.xcode.life/dna-and-health/what-regulates-energy-intake-and-why-does-it-differ-from-person-to-person

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.”

[idea]Folate (vitamin B9, folic acid) is essential for life-sustaining processes of DNA synthesis, replication, and repair and they are naturally present in common foods such as black eyed peas, liver, asparagus, beets, brussels sprouts, and spinach.  Folate levels have been associated with birth defects, cardiovascular disease , and many other important healthcare issues . Individuals differ in their ability to metabolise folate, depending on the type of MTHFR gene that they carry. This article will tell you how you can protect your body and mitigate the influence of your  genes by making proper food choices.[/idea]

The technical part:

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Methyl folate is essential for the proper function of almost all of the body’s systems and it is involved in the conversion of an amino acid homocysteine into methionine. When you eat foods containing folate, MTHFR ( Methylene Tetra Hydrofolate Reductase) enzyme in your body converts it into methylfolate, an active form of folate. MTHFR enzyme is produced by the MTHFR gene. If you have two “normal” copies of this gene, then you produce fully functioning enzyme, if you have one “normal” copy, the enzyme function is reduced and if you have no “normal” copies, then the function is reduced even further.

If you carry a type “TT” (abnormal) of the MTHFR gene, it leads to lower levels of folate in the blood &  reduced enzyme activity, results in elevated levels of homocysteine in the body . Elevated homocysteine level is an independent risk factor of cardiovascular diseases among Indians.

Individuals who carry one copy of the abnormal T-type of the gene can still metabolize folate normally when compared to individuals carrying two copies of the abnormal TT-type of the gene and they are at a higher risk for (hyperhomocysteinemia (elevated levels of homocysteine) in their body.

Fortunately, reduced MTHFR activity and related risks could be corrected by making appropriate changes to your diet:

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  1. Increase your dietary folate intake: Aim for at least 1 cup or more of dark greens every day. Natural food sources of folate includes cooked, dark leafy greens like spinach, kale, broccoli, dark colored fruits (such as oranges), beans, peas, lentils, fortified grains, nuts and peaches.
  2. Include other B vitamins to improve folate metabolism : Inclusion of other B vitamins such as Riboflavin and cobalamin along with Vitamin B9 improves the efficiency of homocysteine elimination.
  3. Include foods containing betaine and choline : Betaine and choline are important in the methylation process and also for reducing the homocysteine levels in the body. Good dietary sources include amaranth, beets, broccoli, Brussels sprouts, cauliflower, chicken, eggs, liver (beef), mutton, spinach, sunflower seeds, sweet potato and turkey.
  4. Switch to a more vegetarian diet : Individuals may benefit from limiting methionine in their diet which is mostly found in animal foods and increasing their folate found in plant based foods.

The American Heart Association advocates a supplement regimen of 400 μg of folic acid, 2 mg of vitamin B6, and 6 μg of vitamin B12, if an initial trial of a folate-rich diet is not successful in adequately lowering homocysteine concentrations.

In addition, get your homocysteine levels measured. High homocysteine levels indicate that you may have a methylation issue or folate deficiency.

Want to know more about MTHFR gene, Xcode’s nutrigenetics test can tell you what versions of the MTHFR gene you have in your DNA. You can also learn about how your genes may influence other traits, including your risk for certain diseases.  You can write to us at info@xcode.in.

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