HSA | FSA CARDS ARE NOW ACCEPTED

How PCSK9 and Your Genes Affect Cholesterol

Cholesterol is a vital fat that supports cell structure and helps produce substances like vitamin D and several hormones. Keeping cholesterol in a balanced range matters because both high and low values can affect health. One gene that plays a major role in cholesterol control is PCSK9. Variations in PCSK9 influence how many LDL receptors your liver makes and keeps on the cell surface. Those receptors remove LDL cholesterol, often called "bad" cholesterol, from the bloodstream. Changes in PCSK9 activity can therefore change how much LDL remains in circulation and can affect long term heart disease risk.

Why PCSK9 matters

PCSK9 encodes a protein that binds to LDL receptors on liver cells and directs them to be broken down. When more PCSK9 is present, fewer LDL receptors remain available to clear LDL cholesterol. Higher LDL cholesterol over time increases the chance of plaque forming in arteries, which raises the risk of coronary artery disease. Knowing your PCSK9 variant can help you and your healthcare provider prioritize prevention and monitoring strategies.

Practical steps that help everyone

  • Follow a heart healthy diet rich in vegetables, fruits, whole grains, legumes, lean proteins, and sources of healthy fats such as olive oil, avocados, nuts, and fatty fish.
  • Limit saturated fats from processed foods and high fat dairy, and avoid trans fats.
  • Aim for regular physical activity. Most adults benefit from at least 150 minutes per week of moderate aerobic exercise or 75 minutes of vigorous exercise, plus muscle strengthening on two or more days per week.
  • Maintain a healthy weight. Even modest weight loss can improve cholesterol and other cardiovascular risk factors.
  • Avoid tobacco and minimize secondhand smoke exposure.
  • Discuss supplements such as omega 3 fatty acids with your healthcare provider before starting. Supplements can interact with medications and are not a substitute for medical treatment.
  • Have regular blood tests to monitor fasting lipid panels, and share your genetic results with your provider so they can interpret results in context.

Genetic Interpretations for PCSK9 rs505151

2 effect alleles — GG (higher PCSK9 activity)

If your genotype is GG at rs505151, you carry two copies of the effect allele. This variant is associated with increased production or activity of the PCSK9 enzyme. More PCSK9 leads to greater breakdown of LDL receptors in the liver, leaving fewer receptors available to clear LDL cholesterol from your bloodstream.

What this means for your health

  • You may have higher circulating LDL cholesterol compared to people without this variation.
  • Persistent elevation in LDL can increase the risk of plaque buildup in arteries and raise the chance of coronary artery disease over time.
  • Genetics are one part of risk. Lifestyle, diet, body weight, other genes, and existing medical conditions all influence your actual cholesterol levels and heart disease risk.

Recommended actions

  • Work with your healthcare provider to check a fasting lipid panel and to review cardiovascular risk factors.
  • Adopt or maintain a heart healthy diet and regular exercise routine. Focus on reducing saturated fat and refined carbohydrates while increasing fiber and unsaturated fats.
  • Consider more frequent monitoring of lipids if levels are above recommended targets.
  • If lifestyle changes are insufficient and LDL remains high, your provider may discuss medication options. Certain classes of cholesterol lowering drugs can be very effective for people with elevated PCSK9 activity.
  • Discuss omega 3 supplements with your provider if appropriate, and consider other lifestyle interventions such as weight management and smoking cessation.
1 effect allele — AG (moderately increased PCSK9 activity)

If your genotype is AG at rs505151, you carry one copy of the effect allele. This change can be associated with increased PCSK9 enzyme activity compared to the non effect genotype, but typically to a more modest degree than two effect alleles.

What this means for your health

  • You may experience modestly higher LDL cholesterol levels than people without the effect allele.
  • This modest increase can contribute to a slightly higher long term risk of coronary artery disease, particularly when combined with other risk factors.
  • Individual risk depends strongly on lifestyle, other health conditions, and additional genetic factors.

Recommended actions

  • Check a fasting lipid panel and review your full cardiovascular risk profile with your healthcare provider.
  • Emphasize heart healthy eating patterns and regular physical activity to counteract genetic tendencies.
  • Monitor weight, blood pressure, and blood sugar. Addressing these factors reduces overall cardiovascular risk.
  • If LDL cholesterol is above guideline targets despite lifestyle changes, discuss medical treatment options with your provider.
0 effect alleles — AA (typical PCSK9 activity)

If your genotype is AA at rs505151, you carry two copies of the non effect allele. This represents the most common genotype and is associated with typical PCSK9 enzyme activity. At this specific genetic location, you do not have an increased tendency for PCSK9 driven LDL receptor degradation.

What this means for your health

  • Your PCSK9-related genetic risk for elevated LDL cholesterol is not increased by this variant.
  • Having this genotype is favorable for this one pathway, but it does not guarantee low cholesterol or absent cardiovascular risk. Other genes and lifestyle factors still matter.

Recommended actions

  • Continue routine heart healthy habits to maintain healthy cholesterol and cardiovascular risk.
  • Have regular lipid testing as advised by your healthcare provider.
  • If you develop high LDL or other risk factors, follow standard care guidelines that your provider recommends, including lifestyle changes and therapies when indicated.

Personalizing action based on results

Genetic information is a tool to guide prevention and monitoring. If your test shows an increased genetic tendency toward higher PCSK9 activity, it is reasonable to be more proactive with lifestyle measures and with lipid monitoring. If your genotype is not associated with increased PCSK9 activity, continue evidence based prevention and screening because other inherited and environmental factors can still influence heart health.

Important notice

PlexusDx provides educational information about genetic predispositions only. This content is not medical advice. Always consult with your healthcare provider to interpret your genetic results, order appropriate blood tests, and make decisions about medical care, medications, supplements, or major lifestyle changes.