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How MTHFR Variations Can Affect Female Fertility

The MTHFR gene helps convert dietary folate into methylfolate, the active form your body uses for DNA synthesis, hormone regulation, and cellular repair. These processes are central to healthy egg development, balanced reproductive hormones, and a successful pregnancy. Some common variations in the MTHFR gene change enzyme efficiency and can influence how well your body makes and uses methylfolate.

Why methylfolate matters for reproductive health

  • Methylfolate supports DNA synthesis and repair in eggs and early embryos.
  • Proper methylation helps regulate hormones such as FSH and AMH that relate to ovarian function and egg reserve.
  • Low active folate availability has been associated with poorer egg quality and higher risk of recurrent pregnancy loss in some cases.

Everyday steps to support fertility, regardless of genotype

Even if your MTHFR result is favorable, lifestyle and nutrition are important for fertility. Consider these general recommendations:

  • Diet: Emphasize natural sources of folate such as leafy greens, asparagus, broccoli, lentils, chickpeas, and organ meats. Include foods that support one-carbon metabolism like eggs, beef, chicken, fish, and bone broth.
  • Supplements: If supplementation is recommended by your healthcare provider consider methylfolate rather than folic acid, especially if you have a reduced function MTHFR variant. A prenatal vitamin that contains methylfolate is often used when trying to conceive or during pregnancy.
  • Supportive nutrients: Ensure adequate intake of choline, B12, B6, vitamin D, magnesium and zinc. Foods high in choline include eggs, liver, and soy. Glycine and creatine are found in meat, eggs and bone broth and can support methylation.
  • Sleep and stress: Aim for consistent high quality sleep and use stress reduction strategies such as gentle movement, meditation, or counseling.
  • Reduce exposures: Limit contact with endocrine disrupting chemicals found in some plastics, personal care products and pesticides. Use safer alternatives and filter drinking water where possible.
  • Healthcare coordination: Share your genetic results with a healthcare provider experienced in reproductive health and genetics to tailor testing and care.

Genetic Interpretation

2 effect alleles (AA at rs1801133) — Significant reduction in MTHFR activity

If your genotype is AA at rs1801133 you carry two copies of the effect allele. This pattern is associated with a 70 to 80 percent reduction in MTHFR enzyme activity compared to typical function. The result can substantially limit your ability to convert folate into methylfolate, which may impact egg quality, reproductive hormones and increase risk of recurrent pregnancy loss.

What this means for fertility

  • Lower active folate availability may impair methylation reactions important for egg development and early embryo health.
  • Hormone levels such as FSH and AMH may be affected, which can influence ovarian reserve assessment and response.
  • There may be a higher chance of recurrent miscarriage associated with low methylation capacity, although many people with this genotype conceive successfully with targeted care.

Practical recommendations

  • Use methylfolate supplements rather than folic acid. Methylfolate bypasses the MTHFR step and provides the active form directly. Work with your provider to determine dosage.
  • Take a prenatal or fertility focused multivitamin that includes methylfolate, methylcobalamin (active B12), B6, and supportive cofactors.
  • Increase dietary folate from natural sources: dark leafy greens, lentils, chickpeas, asparagus and organ meats where appropriate.
  • Support methylation with choline rich foods like eggs and liver, and consider dietary glycine and creatine sources such as bone broth and meat.
  • Check and optimize B12 status. Low B12 can worsen methylation problems even if methylfolate is provided.
  • Optimize sleep, reduce stress, and minimize exposure to endocrine disruptors and environmental toxins to support hormone balance and reproductive health.
  • Discuss targeted blood testing with your provider. Consider tests for serum folate, red blood cell folate, B12, homocysteine and reproductive hormones as part of a fertility workup.
  • Seek care from a clinician familiar with genetics and nutrition when planning conception or addressing recurrent pregnancy loss.
1 effect allele (AG at rs1801133) — Moderate reduction in MTHFR activity

If your genotype is AG at rs1801133 you carry one copy of the effect allele. This genotype is associated with a moderate reduction in enzyme activity, roughly 30 to 40 percent lower than typical. The effect on methylfolate production is milder but still meaningful for reproductive processes.

What this means for fertility

  • Most people with one effect allele have adequate methylation when diet and cofactors are sufficient, but some may notice subtle impacts on egg quality or hormone balance.
  • In the context of other risk factors for infertility, a moderate reduction in MTHFR activity may be one contributing factor.

Practical recommendations

  • Consider methylfolate supplementation in consultation with your healthcare provider, especially when trying to conceive or during early pregnancy.
  • Include folate rich foods such as leafy greens, legumes and asparagus as part of a balanced diet.
  • Ensure adequate intake of B12, B6, choline and supportive minerals through diet or targeted supplements if advised.
  • Prioritize sleep, lower stress and reduce exposures to toxins that can interfere with hormone signaling.
  • Discuss baseline testing for folate status, B12 and homocysteine with your provider if you have fertility concerns or a history of miscarriage.
0 effect alleles (GG at rs1801133) — Typical MTHFR activity

If your genotype is GG at rs1801133 you carry two copies of the non effect allele. This genotype is associated with typical MTHFR enzyme function and normal conversion of folate to methylfolate. It is not linked to an increased risk of fertility problems or recurrent pregnancy loss specifically from this gene variant.

What this means for fertility

  • Your body is generally able to make methylfolate efficiently, supporting healthy DNA synthesis and hormone regulation.
  • Fertility support should focus on overall nutrition, hormone balance and minimizing other risk factors.

Practical recommendations

  • Continue eating a folate rich diet with leafy greens, legumes and whole foods.
  • Take a standard prenatal vitamin with appropriate folate as advised by your provider when planning pregnancy.
  • Maintain good sleep habits, manage stress and reduce environmental exposures to support reproductive health.
  • Share your genetic and fertility history with your healthcare provider to guide personalized care when needed.

Important notes and next steps

PlexusDx provides educational information about genetic predispositions and how they may relate to health. This content is not medical advice. Always consult with your healthcare provider, a genetic counselor or a clinician experienced in reproductive genetics before making changes to supplements, medications or other treatments. Your provider can help interpret genetic results in the context of your personal medical history, labs and fertility goals and recommend appropriate testing or interventions.