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Understanding Your MTHFR Genotype and Folate Metabolism

Folate, also called vitamin B9, is essential for DNA and RNA production, amino acid metabolism, and healthy blood cell formation. The MTHFR gene makes an enzyme that converts folate into its active form, 5-methyltetrahydrofolate, which helps regulate homocysteine levels. When MTHFR enzyme activity is reduced, the body may have lower active folate and higher homocysteine. This can affect cell growth, brain function, and cardiovascular health risk factors. The following explains how different genotypes at rs1801131 may influence folate metabolism and practical ways to support your health.

How to read this result

  • rs1801131 is a common variant in the MTHFR gene.
  • Two copies of the effect allele corresponds to greater reduction in enzyme activity than one copy.
  • Regardless of genotype, diet, lifestyle, and clinical context influence outcomes. Talk with your healthcare provider before starting any supplements or major diet changes.

Genetic interpretations

2 effect alleles (GG at rs1801131)

You carry two copies of the effect allele. This genotype is associated with reduced MTHFR enzyme activity, which may reduce conversion of folate into its active form. Potential consequences include greater risk of lower active folate and higher homocysteine levels.

Considerations and practical steps

  • Diet: Prioritize natural folate sources such as leafy greens, legumes, asparagus, Brussels sprouts, beets, and citrus fruits. Include a variety of colorful vegetables and fruits daily.
  • B vitamins: Eat foods rich in B2, B6, and B12 such as eggs, dairy or fortified alternatives, lean meats, fish, shellfish, nuts, seeds, and whole grains to support methylation pathways.
  • Supplements: Some people with this genotype may benefit from supplementing with the active form L-methylfolate rather than synthetic folic acid, and with methylcobalamin (active B12). Always discuss dosing with your healthcare provider and check for interactions with medications.
  • Avoid or limit: High intake of processed foods containing synthetic folic acid, excessive sugar, and heavy alcohol use. Alcohol can impair folate absorption and methylation.
  • Testing: Consider checking fasting homocysteine and serum folate or red blood cell folate with your provider to assess status and guide interventions.
  • Lifestyle: Regular exercise, maintaining a healthy weight, and managing stress support overall methylation and cardiovascular health.
1 effect allele (GT at rs1801131)

You carry one copy of the effect allele. This genotype is associated with moderately reduced MTHFR enzyme activity and a slight effect on folate processing. You may have mildly reduced active folate levels and a small increase in homocysteine risk compared to typical function.

Considerations and practical steps

  • Diet: Emphasize natural folate from leafy greens, legumes, citrus fruits, and other vegetables. Combine folate-rich foods with sources of B12 and B6 for balanced support.
  • B vitamin foods: Include eggs, dairy or fortified plant milks, fish, poultry, nuts, seeds, and whole grains to supply cofactors for methylation.
  • Supplements: Some people benefit from low-dose L-methylfolate and methylcobalamin if blood tests show low folate or elevated homocysteine. Discuss options with your healthcare provider before starting supplements.
  • Avoid or limit: Excessive processed foods, added sugar, and regular heavy alcohol use. These factors can impair folate absorption and methylation efficiency.
  • Testing: Optional testing for homocysteine and folate can help decide whether supplementation is necessary.
  • Lifestyle: Regular physical activity, adequate sleep, and stress reduction promote healthy metabolism and lower chronic disease risk.
0 effect alleles (TT at rs1801131)

You carry two copies of the non-effect allele. This genotype is associated with typical MTHFR enzyme function and efficient folate metabolism. Your body should convert dietary folate into the active form effectively, supporting healthy homocysteine regulation and cellular processes.

Considerations and practical steps

  • Diet: Continue a balanced diet rich in natural folate sources like leafy greens, legumes, citrus fruits, avocados, and a variety of vegetables and fruits.
  • B vitamin foods: Maintain intake of B vitamin containing foods such as eggs, dairy, lean meats, fish, nuts, and seeds.
  • Supplements: Routine supplementation with active folate is usually not necessary unless clinical testing shows deficiency or a healthcare provider recommends it for a specific reason such as pregnancy.
  • Avoid or limit: Minimize processed foods, reduce added sugars, and drink alcohol in moderation to preserve nutrient absorption and overall health.
  • Testing: Routine testing is not typically required for this genotype unless there are symptoms or clinical reasons to check folate or homocysteine levels.
  • Lifestyle: Keep up healthy habits like regular exercise, stress management, and adequate sleep to support overall nutrient use and wellbeing.

Diet, supplement, and lifestyle guidance

Diet and lifestyle strongly influence how genes affect your health. The following practical tips support folate metabolism and methylation pathways for people of any MTHFR genotype.

Food-first approach

  • Leafy greens: Spinach, kale, Swiss chard, collards, and arugula are top sources of natural folate.
  • Legumes and beans: Lentils, chickpeas, black beans, and soy provide folate and fiber.
  • Citrus and fruit: Oranges, strawberries, papaya, and avocado add folate with antioxidants.
  • Nuts and seeds: Provide B vitamins, healthy fats, and cofactors for methylation.
  • Animal and fortified sources: Eggs, fish, shellfish, and fortified whole grains or plant milks can help fill gaps, especially for vitamin B12.

Smart supplementation when needed

  • Active folate: L-methylfolate is the bioactive form and is an option when conversion may be impaired. Work with your healthcare provider on dose and need.
  • Vitamin B12: Methylcobalamin is the active B12 form to consider if testing shows low B12, or for those on strict plant-based diets.
  • Balanced B complex: A quality B complex can supply B2, B6, and B12 to support methylation. Avoid high single doses without guidance.
  • Testing first: Have serum folate, red blood cell folate, vitamin B12, and homocysteine checked before beginning targeted supplements when possible.

Lifestyle habits that support methylation

  • Limit alcohol: Alcohol impairs folate absorption and metabolism.
  • Move regularly: Aerobic exercise and resistance training support metabolic health.
  • Manage stress: Chronic stress affects nutrient use and methylation. Try breathing techniques, mindfulness, or counseling.
  • Sleep: Aim for consistent, restorative sleep to support repair and metabolic balance.
  • Weight and chronic disease management: Maintain a healthy weight and manage conditions like diabetes, high blood pressure, and high cholesterol with your provider.

When to talk with your healthcare provider

  • If you are pregnant, planning pregnancy, or of childbearing potential, discuss folate strategy and testing with your provider.
  • If blood tests show low folate, low B12, or high homocysteine, your provider can recommend testing, monitoring, and treatment.
  • If you are taking medications that affect folate or B12, such as certain anticonvulsants or methotrexate, discuss adjustments and monitoring.

Disclaimer

PlexusDx provides genetic information for educational purposes only. This content is not medical advice and does not replace consultation with a qualified healthcare provider. Always discuss genetic results, testing, and treatment options with your healthcare provider before making changes to supplements, medications, or lifestyle plans.