HSA | FSA CARDS ARE NOW ACCEPTED

Understanding MTHFR and What Your rs1801131 Genotype Means for Your Health

The MTHFR gene makes an enzyme called methylenetetrahydrofolate reductase that helps convert folate into its active form, 5-methyltetrahydrofolate (5-MTHF). 5-MTHF is a critical molecule in the methylation cycle, which recycles homocysteine into methionine. Proper methylation supports DNA synthesis, detoxification, neurotransmitter production, and many other cellular processes.

Changes in the MTHFR gene can alter enzyme efficiency. When MTHFR activity is reduced, 5-MTHF production can be limited, which may raise homocysteine levels and affect methylation. The effect of any single genetic variation depends heavily on lifestyle and environmental factors including diet, smoking, alcohol intake, stress, and overall nutrient status.

How to Read This Result

  • rs1801131 is a common location in the MTHFR gene. Different letters represent different versions of the gene called alleles.
  • The genotype listed below describes how many copies of the effect allele you carry: two copies, one copy, or zero copies.
  • Each genotype summary explains likely effects on MTHFR activity, potential health impacts, and practical steps you can take to support methylation.

Genetic Interpretations

Two effect alleles (GG) — reduced MTHFR activity

If you have the GG genotype, you carry two copies of the effect allele associated with reduced MTHFR enzyme activity. This can lead to lower production of 5-MTHF and may impair methylation, increasing the chance of elevated homocysteine. Reduced methylation capacity can affect DNA synthesis, detoxification, and neurotransmitter balance.

Potential implications

  • Higher risk of elevated homocysteine, particularly without dietary support
  • Possible increased risk for cardiovascular and certain metabolic concerns
  • Increased importance of active folate and methylation cofactors

Practical recommendations

  • Prefer active folate: consider folate as 5-MTHF rather than folic acid
  • Ensure adequate intake of B vitamins: B2 (riboflavin), B6 (pyridoxine), and B12 (methylcobalamin) support methylation
  • Eat folate-rich foods: leafy greens, legumes, asparagus, broccoli, and citrus
  • Limit alcohol and smoking to reduce homocysteine and oxidative stress
  • Consider low dose methylation-support supplements if advised by a clinician
  • Monitor blood tests: homocysteine, serum folate, red blood cell folate, vitamin B12, and methylmalonic acid if clinically indicated
  • Work with your healthcare provider before starting supplements especially if pregnant, breastfeeding, taking medications, or planning conception
One effect allele (GT) — intermediate MTHFR activity

If you have the GT genotype, you carry one copy of the effect allele and one copy of the non-effect allele. This may cause a partial reduction in MTHFR activity, often producing only a mild effect on 5-MTHF production and methylation under typical conditions.

Potential implications

  • Most people maintain normal folate and methylation function
  • During stress, illness, or poor nutrition methylation may become less efficient
  • Supportive nutrition can help maintain biochemical balance

Practical recommendations

  • Include dietary sources of folate: leafy greens, beans, and fortified foods as appropriate
  • Ensure sufficient B2, B6, and B12 through diet or supplements if needed
  • Maintain healthy lifestyle habits: regular exercise, stress management, and moderate alcohol use
  • Screening tests if symptoms or family history suggest concern: homocysteine, folate, B12
  • Consult your healthcare provider before beginning supplements
Zero effect alleles (TT) — typical MTHFR activity

If you have the TT genotype, you carry two copies of the non-effect allele and are generally expected to have normal MTHFR enzyme activity. This supports effective production of 5-MTHF and a normally functioning methylation cycle.

Potential implications

  • Lower baseline risk of folate-related methylation imbalances
  • Standard dietary and lifestyle measures are usually sufficient

Practical recommendations

  • Maintain a balanced diet with adequate folate and B vitamins
  • Keep healthy habits: exercise, sleep, and limit smoking and excessive alcohol
  • Routine bloodwork as part of general preventive care; test further only if clinically indicated

Dietary Recommendations

Focus on whole foods that supply naturally occurring active folate and methylation cofactors. Aim to include:

  • Leafy greens: spinach, kale, collards, arugula
  • Legumes: lentils, chickpeas, black beans
  • Cruciferous vegetables: broccoli, Brussels sprouts
  • High quality protein sources for B12: fish, poultry, eggs, dairy, or fortified plant foods
  • Foods rich in riboflavin: dairy, eggs, lean meat, almonds
  • Foods rich in B6: potatoes, bananas, chickpeas, poultry

Supplement Considerations

If your genotype and clinical context suggest increased need, consider discussing these options with your provider:

  • Active folate as 5-MTHF instead of folic acid
  • Methylcobalamin or hydroxocobalamin forms of B12
  • Vitamin B6 in pyridoxal-5-phosphate form if indicated
  • Riboflavin (vitamin B2) to support MTHFR enzyme function
  • A balanced B-complex may be useful when chosen under medical guidance

Lifestyle and Monitoring

  • Limit alcohol and stop smoking to reduce interference with methylation and homocysteine control
  • Maintain a healthy weight and regular physical activity to support cardiovascular health
  • Manage chronic stress through sleep, mindfulness, and social support
  • Regular blood tests when recommended: plasma homocysteine, serum folate, red blood cell folate, vitamin B12, and methylmalonic acid are useful measures of status
  • During pregnancy or preconception planning discuss folate form and dose with your clinician to reduce the risk of neural tube defects

When to Talk to Your Healthcare Provider

  • If you have a personal or family history of high homocysteine, cardiovascular disease, recurrent pregnancy loss, or neural tube defects
  • If you are pregnant, planning pregnancy, or breastfeeding
  • If you have symptoms that might reflect B vitamin deficiencies such as fatigue, neuropathy, mood changes, or cognitive concerns
  • Before starting any supplements or making major changes to medications or diet

PlexusDx provides genetic information to help you better understand potential predispositions. This information is educational and not medical advice. Always consult your healthcare provider to interpret genetic results in the context of your health history, symptoms, medications, and laboratory testing. Your clinician can help tailor testing and a plan that is right for you.