Understanding Vitamin D and the CYP2R1 Gene

Vitamin D supports bone health, immune function, muscle strength, and nerve activity. Your body makes vitamin D in the skin when exposed to sunlight and also gets it from foods such as fatty fish, egg yolks, and fortified products. After vitamin D is produced in the skin or eaten, the liver performs a key first step to convert it into the main circulating form used to assess status: 25-hydroxyvitamin D (25(OH)D).

The CYP2R1 gene helps produce the liver enzyme that performs that conversion. Common genetic variations in CYP2R1 can change how efficiently the enzyme works and therefore influence circulating vitamin D levels. A genetic predisposition does not guarantee low or high vitamin D, but it can make maintaining optimal levels easier or harder depending on your genotype.

How to Think About Your Results

PlexusDx provides genetic information to help you understand predispositions. This is educational only. PlexusDx does not provide medical advice. Always consult your healthcare provider before making decisions about testing, supplementation, or medical treatment.

Two effect alleles (AA) — lower vitamin D tendency

What it means: If your genotype is AA at rs2060793, you carry two copies of the effect allele. This pattern is associated with a higher likelihood of reduced efficiency in converting vitamin D to 25(OH)D in the liver. You may be more prone to lower circulating vitamin D levels compared with people who have other genotypes.

Practical steps:

  • Consider baseline testing: Ask your provider about measuring serum 25(OH)D to know your current status.
  • Diet: Increase intake of vitamin D-rich foods — fatty fish (salmon, mackerel, sardines), egg yolks, fortified milk and plant milks, yogurt, and fortified cereals.
  • Supplements: Supplementation may be helpful, especially in fall and winter or if your blood level is low. Discuss dosage and form (vitamin D3 is commonly recommended) with your healthcare provider.
  • Sun exposure: Practice safe, moderate sun exposure on arms and legs when possible, balancing skin cancer risk and vitamin D needs. Short daily exposure during midday months can support production.
  • Other factors: Maintain a healthy weight and review medications or conditions with your provider that can affect vitamin D status (for example, some anticonvulsants or fat malabsorption).
  • Follow up: Re-check 25(OH)D after starting supplements or making lifestyle changes to confirm levels are in the desired range.
One effect allele (AG) — slightly lower vitamin D tendency

What it means: If your genotype is AG at rs2060793, you carry one copy of the effect allele. This genotype is associated with a modest tendency toward lower 25(OH)D levels compared with the non-effect genotype, but it does not guarantee deficiency.

Practical steps:

  • Testing: Consider a serum 25(OH)D test if you have symptoms suggestive of deficiency or risk factors such as limited sun exposure, darker skin, higher body mass index, older age, or certain medical conditions.
  • Diet: Add regular servings of vitamin D-rich foods like salmon, canned sardines, mackerel, egg yolks, and fortified dairy or dairy alternatives.
  • Supplements: Many people benefit from a low to moderate daily vitamin D supplement during months with limited sunlight. Consult your healthcare provider for personalized dosing.
  • Sun exposure: Aim for safe, short periods of sun exposure several times per week, taking care to avoid sunburn.
  • Lifestyle: Stay active and maintain a balanced diet that supports overall nutrient absorption and bone health, including adequate calcium and magnesium.
  • Monitoring: If you start supplementation, check 25(OH)D as recommended by your provider to ensure levels are adequate.
No effect alleles (GG) — more favorable vitamin D tendency

What it means: If your genotype is GG at rs2060793, you carry two copies of the non-effect allele. This genotype is associated with a greater likelihood of efficient conversion to 25(OH)D and comparatively higher circulating vitamin D levels. This is a favorable genetic predisposition for maintaining vitamin D.

Practical steps:

  • Testing: Routine testing is not required for everyone, but consider a baseline 25(OH)D test if you have risk factors, signs of low vitamin D, or take medications that interfere with vitamin D metabolism.
  • Diet: Continue to include vitamin D-rich foods in your diet as part of balanced nutrition.
  • Supplements: You may not need supplements if you get regular sun exposure and consume adequate dietary vitamin D, but supplementation is still appropriate during low sunlight months or if testing shows low levels. Discuss with your healthcare provider.
  • Sun exposure: Maintain safe sun habits to support natural vitamin D production, while protecting skin health.
  • Healthy habits: Keep an eye on other factors that influence vitamin D, such as body composition, age, and medications. Maintain overall bone-healthy behaviors like weight-bearing exercise and adequate calcium.

Practical Lifestyle and Dietary Tips

  • Food-first approach: Make fatty fish the centerpiece of meals twice weekly when possible. Use egg yolks and fortified foods to boost daily intake.
  • Supplement strategy: If you and your provider choose supplementation, many adults take a daily vitamin D3 supplement during months with limited sunlight. Your provider can recommend testing and a dose tailored to your individual needs.
  • Sun smart practices: Short, regular periods of sun exposure can support vitamin D production. Avoid prolonged unprotected sun exposure and follow skin cancer prevention guidance appropriate for your skin type.
  • Bone support: Combine vitamin D strategies with adequate calcium intake and weight-bearing exercise to support bone strength.
  • Know the risk factors: Darker skin, older age, higher body fat, limited outdoor time, and certain medical conditions can reduce vitamin D levels independently of genetics.

Testing and When to Talk to Your Provider

Measure serum 25-hydroxyvitamin D (25(OH)D) to determine vitamin D status. Discuss results and appropriate actions with your healthcare provider, especially if your level is low, you have symptoms, or you have medical conditions or medications that affect vitamin D metabolism. If you begin supplementation, periodic re-testing helps ensure your levels are in a healthy range.

Final Notes and Disclaimer

PlexusDx provides genetic information to help you understand predispositions related to vitamin D metabolism. This information is educational only. PlexusDx does not provide medical advice. Always consult your healthcare provider before starting or changing supplements, medications, or medical tests. Your provider can interpret genetic results in the context of your medical history, current medications, lifestyle, and laboratory results to guide safe and effective care.