What you carry at this position in your DNA and what research says about it.
Heart Disease Risk: 7/10 evidence, 18 publications.
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Sample genotype (not yours): T/T
Typical Cholesterol and Heart Risk
Standard genetic inheritance of two T alleles results in typical baseline levels of LDL cholesterol and average cardiovascular risk. This is the most common genetic profile globally, representing the standard reference point for heart health.
What this genotype means: Typical baseline levels of LDL and total cholesterol; Average population risk for coronary artery disease.
Sample genotype (not yours): C/C
Lowest Cholesterol and Heart Risk
Two copies of the protective C allele provide the strongest natural reduction in LDL cholesterol and cardiovascular risk. This rare profile optimizes the liver's ability to clear harmful lipids from the blood.
What this genotype means: Optimized liver clearance of circulating LDL cholesterol; Significantly lower risk of coronary artery disease and heart attacks.
Sample genotype (not yours): T/C
Lower Cholesterol and Heart Risk
One copy of the protective C allele is linked to lower LDL cholesterol and a reduced risk of heart disease. This genetic advantage helps the liver clear cholesterol more efficiently from the bloodstream.
What this genotype means: Reduced circulating LDL and total cholesterol levels; Lower lifetime risk of coronary artery disease.
Gene function and biological role
Gene Function: PCSK9 encodes proprotein convertase subtilisin/kexin type 9, a crucial regulator of cholesterol metabolism. It binds to low-density lipoprotein receptors on liver cells, promoting their degradation and reducing the liver's ability to clear LDL cholesterol from the blood [1]. Consequently, higher levels or activity of PCSK9 lead to elevated circulating LDL cholesterol and an increased risk of cardiovascular disease [1]. Conversely, natural loss-of-function variants in this gene are associated with significantly lower LDL cholesterol and a reduced risk of heart disease [1]. This biological pathway is the target of modern cholesterol-lowering medications known as PCSK9 inhibitors [1].
Variant Impact: Located near the PCSK9 gene on chromosome 1, rs11206510 acts as a strong genetic modifier of cholesterol levels [2]. The common T allele is associated with higher PCSK9 levels and increased LDL cholesterol [2]. In contrast, the minor C allele functions as a protective variant, lowering both total and LDL cholesterol [3]. This reduction in cholesterol translates directly into a lower lifetime risk of coronary artery disease and heart attacks [3].
Key Insight: The protective C allele at this locus naturally mimics the effects of modern PCSK9 inhibitor drugs, helping the liver clear cholesterol more efficiently.
Location: PCSK9. Chromosome 1 · 1p32.3 · 55.0 Mb
Estimated prevalence by population
Global 71.9%; European 66.8%; African 74.5%; East Asian 90.4%; South Asian 90.5%; Americas 79.3%; Ashkenazi 68.0%; Finnish 68.6%; Middle Eastern 74.6%; Amish 57.6%.
Estimated TT genotype frequency.
Global 25.6%; European 29.8%; African 23.6%; East Asian 9.4%; South Asian 9.3%; Americas 19.5%; Ashkenazi 28.9%; Finnish 28.5%; Middle Eastern 23.5%; Amish 36.6%.
Estimated TC genotype frequency.
Global 2.5%; European 3.3%; African 1.9%; East Asian 0.2%; South Asian 0.2%; Americas 1.2%; Ashkenazi 3.1%; Finnish 3.0%; Middle Eastern 1.9%; Amish 5.8%.
Estimated CC genotype frequency.
Showing effects for T/T genotype
Cardiovascular & Metabolic
Heart Disease
Coronary Artery Disease. Evidence: 8/10. Source: PMID 21378990. Typical Risk.
Heart Attack. Evidence: 7/10. Source: PMID 19198609. Typical Risk.
Lipids & Cholesterol
LDL Cholesterol. Evidence: 10/10. Source: PMID 18193043. Typical Levels.
Total Cholesterol. Evidence: 10/10. Source: PMID 33462484. Typical Levels.
Apolipoprotein B. Evidence: 8/10. Source: PMID 33462484. Typical Levels.
PCSK9 Levels. Evidence: 6/10. Source: PMID 34590679. Typical Levels.
Showing effects for C/C genotype
Coronary Artery Disease. Evidence: 8/10. Source: PMID 21378990. Lowest Risk.
Heart Attack. Evidence: 7/10. Source: PMID 19198609. Lowest Risk.
LDL Cholesterol. Evidence: 10/10. Source: PMID 18193043. Lowest Levels.
Total Cholesterol. Evidence: 10/10. Source: PMID 33462484. Lowest Levels.
Apolipoprotein B. Evidence: 8/10. Source: PMID 33462484. Lowest Levels.
PCSK9 Levels. Evidence: 6/10. Source: PMID 34590679. Lowest Levels.
Showing effects for T/C genotype
Coronary Artery Disease. Evidence: 8/10. Source: PMID 21378990. Lower Risk.
Heart Attack. Evidence: 7/10. Source: PMID 19198609. Lower Risk.
LDL Cholesterol. Evidence: 10/10. Source: PMID 18193043. Lower Levels.
Total Cholesterol. Evidence: 10/10. Source: PMID 33462484. Lower Levels.
Apolipoprotein B. Evidence: 8/10. Source: PMID 33462484. Lower Levels.
PCSK9 Levels. Evidence: 6/10. Source: PMID 34590679. Lower Levels.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
Standard genetic inheritance of two T alleles means cholesterol clearance operates at a standard baseline rate. Research indicates that this genotype is associated with typical levels of circulating PCSK9 and LDL cholesterol [1]. Because there is no protective C allele to lower these levels, the lifetime risk of developing coronary artery disease or experiencing a myocardial infarction remains at the population average [2]. Standard cardiovascular prevention strategies, such as maintaining a balanced diet and regular exercise, are key to managing risk. Some studies suggest that individuals with this baseline profile do not see the same specific heart-protective benefits from omega-3 fatty acid supplementation as those carrying the C allele, though general health benefits still apply [3]. Monitoring standard lipid panels during routine checkups helps track overall cardiovascular health over time.
Typical baseline levels of LDL and total cholesterol; Average population risk for coronary artery disease.
Sample genotype: CC (Homozygous)
Inheriting two copies of the protective C allele represents a highly advantageous genetic profile for cardiovascular health. Having two protective alleles is associated with the lowest baseline levels of PCSK9 and circulating LDL cholesterol [1]. With fewer PCSK9 proteins to degrade low-density lipoprotein receptors, the liver can rapidly and continuously clear cholesterol from the bloodstream. This highly efficient clearance significantly lowers the lifetime risk of coronary artery disease and myocardial infarction compared to the general population [2]. This natural genetic mechanism closely mirrors the therapeutic effects of modern cholesterol-lowering medications. While this profile offers substantial protection, maintaining healthy lifestyle habits remains important for overall cardiovascular wellness.
Optimized liver clearance of circulating LDL cholesterol; Significantly lower risk of coronary artery disease and heart attacks.
Sample genotype: TC (Heterozygous)
Possessing one copy of the protective C allele naturally influences the expression of the nearby PCSK9 gene, leading to more efficient cholesterol regulation. Clinical studies show that carriers of this single protective allele tend to have lower circulating levels of both total and LDL cholesterol [1]. This reduction in blood lipids directly correlates with a decreased risk of developing coronary artery disease and experiencing a heart attack [2]. The liver is better equipped to clear low-density lipoproteins from circulation, helping to prevent the buildup of arterial plaque over time. Some clinical evidence also suggests that carriers of this protective variant may experience unique cardiovascular benefits from dietary interventions, such as omega-3 fatty acid intake [3]. Maintaining a heart-healthy lifestyle further enhances this natural genetic advantage.
Reduced circulating LDL and total cholesterol levels; Lower lifetime risk of coronary artery disease.
Variants with shared genetic architecture
rs11591147 · PCSK9 Gene · Chr 1 · Heart Disease Risk
rs2479409 · PCSK9 Gene · Chr 1 · Cholesterol Levels
rs28362286 · PCSK9 Gene · Chr 1 · LDL Cholesterol Levels
Meta-GWAS of PCSK9 levels detects two novel loci at APOB and TM6SF2.
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
Content updated August 2026.
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