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Understanding Folate and the MTHFR Gene

Folate, also known as vitamin B9, plays a central role in DNA synthesis, cell growth, and converting homocysteine into methionine. These processes support heart and brain health, help maintain healthy cell division, and contribute to detoxification and neurotransmitter production. The MTHFR gene makes an enzyme that converts folate from food into its active form, 5-methyltetrahydrofolate or 5-MTHF, which the body uses in methylation and repair reactions.

Why MTHFR Matters

Some people carry genetic variants that change how well the MTHFR enzyme works. Reduced enzyme activity can lower levels of active folate and potentially increase homocysteine, an amino acid that, when elevated over time, has been associated with cardiovascular and cognitive concerns. Knowing your MTHFR genotype helps you tailor diet, supplement choices, and lifestyle actions to support healthy folate metabolism.

How to Use This Information

This article explains the typical effects of different MTHFR genotypes and suggests practical, consumer-friendly steps you can take to support folate metabolism. PlexusDx does not provide medical advice. Always consult your healthcare provider before making changes to supplements, medications, or treatment plans.

Diet Recommendations

  • Eat folate-rich foods daily: leafy greens like spinach and kale, legumes such as lentils and chickpeas, asparagus, Brussels sprouts, beets, and citrus fruits.
  • Include fortified whole grains or cereals if needed to meet dietary folate equivalents.
  • Balance protein intake from fish, poultry, eggs, and dairy to support overall nutrient status and B vitamin absorption.
  • Choose a variety of colorful vegetables and fruits to supply supporting nutrients and antioxidants for methylation and cellular repair.

Supplement Recommendations

  • Consider methylated folate if you have reduced MTHFR activity. Look for L-methylfolate or 5-MTHF, which are active forms that bypass the MTHFR conversion step.
  • Ensure adequate vitamin B12 status. Methylcobalamin is the active form of B12 often recommended to support the methylation cycle.
  • Include vitamin B6 and riboflavin (vitamin B2). These B vitamins support related enzymes and can help maintain balanced homocysteine levels.
  • Start supplements under the guidance of your healthcare provider. Dose needs vary by age, sex, medical history, medications, and lab results.

Lifestyle and Monitoring

  • Regular exercise supports cardiovascular health and may help regulate homocysteine.
  • Maintain a healthy weight and manage stress with sleep, relaxation, and mind body techniques.
  • Avoid excessive alcohol and smoking, both of which can impair folate status and methylation.
  • Consider blood testing if recommended by your provider. Tests might include serum folate, red blood cell folate, vitamin B12, and homocysteine to guide targeted interventions.

Genetic Interpretations

2 effect alleles (AA for rs1801133)

If your genotype is AA, you carry two copies of the effect allele. This pattern is associated with reduced MTHFR enzyme activity, which can make converting dietary folate into the active form 5-MTHF less efficient. Possible consequences include lower levels of active folate available for DNA repair and methylation, and a greater chance of higher homocysteine in the blood.

Practical steps to consider

  • Prioritize foods high in folate every day: dark leafy greens, legumes, asparagus, and citrus.
  • Discuss with your healthcare provider the option of taking an active form of folate such as L-methylfolate or 5-MTHF instead of synthetic folic acid.
  • Check and support related B vitamins: riboflavin (B2), pyridoxine or pyridoxal phosphate (B6), and methylcobalamin (B12).
  • Ask your provider about testing serum or red blood cell folate and homocysteine to see if interventions are needed and to guide dosing.
  • Adopt heart healthy habits: regular aerobic exercise, smoking avoidance, moderate alcohol use, and stress management.
1 effect allele (AG for rs1801133)

If your genotype is AG, you carry one copy of the effect allele. This genotype is associated with moderately reduced MTHFR enzyme activity. Your body may convert folate to 5-MTHF less efficiently than individuals without the effect allele, which could modestly lower active folate levels and slightly raise homocysteine in some people.

Practical steps to consider

  • Include folate rich foods regularly: leafy greens, legumes, beets, and citrus fruits.
  • Consider a supplement containing methylated folate (L-methylfolate or 5-MTHF) if dietary intake is insufficient, especially if you have symptoms or a provider recommends it.
  • Support the methylation cycle with B2, B6, and active B12 forms as appropriate.
  • Monitor lifestyle factors that affect cardiovascular and cognitive health: exercise, sleep, and stress reduction.
  • If concerned about homocysteine or folate status, consult your provider about blood testing to personalize recommendations.
0 effect alleles (GG for rs1801133)

If your genotype is GG, you have two copies of the non-effect allele and your MTHFR enzyme typically functions at normal efficiency. You are generally able to convert dietary folate into 5-MTHF effectively, supporting DNA synthesis, repair, and methylation processes.

Practical steps to consider

  • Maintain a balanced diet with folate-rich foods such as leafy greens, legumes, fortified grains, and citrus fruits.
  • Ensure adequate intake of B vitamins, particularly B2, B6, and B12, through diet or supplements if your provider advises them.
  • Follow general wellness practices: regular exercise, healthy sleep, stress management, and avoidance of smoking.
  • Routine lab testing is not typically required solely based on this genotype, but discuss any specific health concerns with your healthcare provider.

When to Talk with Your Healthcare Provider

  • If you have a personal or family history of cardiovascular disease, recurrent pregnancy loss, cognitive changes, or other health concerns linked to folate or homocysteine, share your genetic results with your provider.
  • If you plan to start supplements, particularly higher dose folate or combined B vitamin therapy, consult your provider to review interactions with medications and to determine appropriate dosing.
  • Ask about targeted blood tests if you want to know your current folate, B12, and homocysteine status. These tests help tailor diet and supplement decisions.

PlexusDx provides educational information about genetic predispositions and does not provide medical advice. Use this information to discuss personalized care with your healthcare provider. Your provider can interpret these results in the context of your full medical history, symptoms, medications, and lab tests.