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CPS1 Gene and Heart Health: What Your Results Mean

Heart health matters for energy, longevity, and overall quality of life. The CPS1 gene makes an enzyme that helps remove ammonia and influences levels of homocysteine and nitric oxide. These molecules affect blood vessel function and cholesterol metabolism. Variations in CPS1 can be linked to higher homocysteine and LDL cholesterol and reduced blood vessel flexibility, which may increase cardiovascular risk. Below is an easy to understand guide to how CPS1 variation can affect your heart and practical steps you can take to support cardiovascular wellness.

How CPS1 Affects the Body

  • Ammonia clearance and the urea cycle: CPS1 helps remove ammonia produced during protein metabolism.
  • Homocysteine metabolism: CPS1 variation can raise homocysteine, an amino acid that at higher levels may harm artery linings.
  • Nitric oxide signaling: Changes in CPS1 may reduce nitric oxide availability, which lowers blood vessel flexibility and healthy blood flow.
  • Cholesterol influence: Some CPS1 variants can be associated with higher LDL cholesterol.

Genetic Interpretation

2 effect alleles (AA) — Higher risk pattern

If you have the AA genotype for rs1047891, you carry two copies of the effect allele. This pattern is associated with higher homocysteine levels, elevated LDL cholesterol, and reduced nitric oxide responsiveness in blood vessels. These factors can reduce cardiovascular resilience.

Practical implications

  • Consider focused methylation support to help lower homocysteine.
  • Monitor cholesterol and vascular health more closely with your provider.
  • Emphasize heart healthy lifestyle choices to lower overall cardiovascular risk.
1 effect allele (AC) — Moderate effect

If you have the AC genotype for rs1047891, you carry one copy of the effect allele. This genotype is associated with moderately elevated homocysteine and increased sensitivity in cardiovascular pathways. Your CPS1 variant may influence homocysteine processing and nitric oxide function, affecting blood vessel flexibility and inflammation risk in artery linings.

Practical implications

  • B vitamin support can be beneficial to support normal homocysteine breakdown.
  • Adopt heart supportive habits to reduce additive risk from diet, inactivity, or stress.
  • Talk with your healthcare provider about whether targeted testing or supplements make sense for you.
0 effect alleles (CC) — Typical function

If you have the CC genotype for rs1047891, you carry two copies of the non-effect allele. This is the most common genotype and is associated with typical CPS1 enzyme function. Your urea cycle and homocysteine metabolism are likely functioning within expected ranges, and nitric oxide signaling is usually normal, supporting healthy blood vessel relaxation and flexibility.

Practical implications

  • Standard heart healthy recommendations apply.
  • Routine monitoring and healthy habits are typically sufficient unless other risk factors are present.

Dietary Recommendations

Nutrition is a powerful way to support homocysteine balance, cholesterol, and vascular health.

  • Eat leafy greens daily. Spinach, kale, collards, and Swiss chard are high in folate and other nutrients that support homocysteine metabolism.
  • Include legumes regularly. Lentils, beans, and peas provide fiber, folate, and plant protein that support cardiovascular health.
  • Choose whole grains. Oats, brown rice, quinoa, and barley support healthy cholesterol and provide B vitamins.
  • Prioritize omega-3 rich foods. Fatty fish such as salmon, mackerel, sardines, and plant sources like chia or flaxseed support healthy inflammation levels and blood vessel function.
  • Limit saturated fats and refined carbohydrates. These can raise LDL cholesterol and increase cardiovascular risk.
  • Include colorful fruits and vegetables for antioxidants that protect blood vessel linings and reduce inflammation.

Supplements to Consider

Discuss supplementation with your healthcare provider before starting anything new. Some options to talk about include:

  • Vitamin B6. Supports pathways that help lower homocysteine.
  • Methylated B12 (methylcobalamin). Preferred for direct support of methylation and homocysteine breakdown for people with methylation sensitivity.
  • Folate as methylfolate. Active folate can help reduce homocysteine more predictably than folic acid for some people.
  • Nattokinase. An enzyme derived from fermented soy that may support healthy circulation and fibrin balance.
  • Bergamot extract. May help maintain healthy cholesterol levels, particularly LDL.

Lifestyle Strategies

  • Exercise regularly. Aim for a mix of aerobic activity and strength training to support blood pressure, cholesterol, and vascular flexibility.
  • Manage stress. Chronic stress can reduce nitric oxide signaling and increase cardiovascular risk. Try breathing exercises, meditation, yoga, or other practices you enjoy.
  • Avoid smoking and limit alcohol. Smoking impairs blood vessel function and increases risk. Excess alcohol can raise triglycerides and blood pressure.
  • Maintain a healthy weight. Excess body fat increases inflammation and strains the cardiovascular system.
  • Prioritize sleep. Poor sleep quality raises cardiovascular risk factors including blood pressure and inflammation.

Blood Tests and Monitoring

Work with your healthcare provider to decide which tests are right for you. Common tests related to CPS1 and heart risk include:

  • Fasting lipid panel. Measures LDL, HDL, total cholesterol, and triglycerides.
  • High sensitivity C-reactive protein. A marker of inflammation.
  • Fasting glucose or hemoglobin A1c. To screen for blood sugar issues that affect heart risk.
  • Plasma homocysteine. Directly measures the molecule affected by CPS1 variation.
  • Blood pressure checks and routine clinical cardiovascular risk assessment.

When to Talk to Your Healthcare Provider

  • If your homocysteine is elevated, discuss targeted nutrient support and follow up testing.
  • If LDL cholesterol is high, review lifestyle measures and medical treatment options as appropriate.
  • Before starting supplements like methylated B12, methylfolate, nattokinase, or bergamot extract, especially if you take medications or have medical conditions.
  • If you have a family history of early heart disease, discuss more intensive monitoring or specialist referral.

Final Notes and Disclaimer

PlexusDx provides educational information about genetic predispositions only. This content does not provide medical advice. Always consult with your healthcare provider before making changes to your diet, exercise, supplement routine, or medical care. Your provider can help interpret genetic results in the context of your full medical history, current medications, and overall risk profile.