What you carry at this position in your DNA and what research says about it.
Cardiovascular Disease Risk: 8/10 evidence, 32 publications.
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Sample genotype (not yours): C/C
Higher Risk of Heart Disease and Blood Clots
Elevated levels of LDL and total cholesterol are associated with this genetic profile, which can increase the risk of cardiovascular issues. There is also a higher likelihood of developing venous blood clots.
What this genotype means: Higher risk of coronary artery disease; Elevated LDL and total cholesterol levels; Increased risk of venous blood clots.
Sample genotype (not yours): C/T
Slightly Elevated Risk of Heart Disease
Slightly higher cholesterol levels and a modest increase in cardiovascular risk are common with this intermediate profile. The overall risk falls between the higher-risk and lower-risk genotypes.
What this genotype means: Slightly increased risk of coronary artery disease; Moderately elevated cholesterol levels; Slightly higher risk of venous blood clots.
Sample genotype (not yours): T/T
Lower Risk of Heart Disease and Blood Clots
Lower levels of LDL and total cholesterol offer natural protection against cardiovascular disease with this genetic profile. There is also a reduced risk of developing venous blood clots.
What this genotype means: Lower risk of coronary artery disease; Favorable LDL and total cholesterol levels; Reduced risk of venous blood clots.
Gene function and biological role
Gene Function: The ABO gene encodes the glycosyltransferase enzyme that determines an individual's ABO blood group [1]. This gene is highly pleiotropic, meaning it influences a wide variety of physiological traits beyond blood type, including cardiovascular health, lipid levels, and blood clotting [2]. The enzyme modifies carbohydrates on the surface of red blood cells and other tissues, which affects how cells interact with each other and with blood vessels [3]. Variations in this gene are strongly linked to the risk of developing coronary artery disease and venous thromboembolism [4].
Variant Impact: The rs579459 variant is located near the ABO gene and acts as a strong genetic marker for blood group variations [5]. The C allele of this variant is closely associated with non-O blood groups (such as blood group A), which are linked to higher levels of LDL and total cholesterol [6]. Conversely, the T allele is associated with blood group O, which typically features lower cholesterol levels and a reduced risk of blood clots [4]. This single nucleotide change also significantly influences the levels of cell adhesion molecules like E-selectin and P-selectin in the bloodstream.
Key Insight: This genetic variant is a strong proxy for your ABO blood type and explains up to 19% of the variance in circulating E-selectin, a key marker of blood vessel inflammation.
Location: ABO. Chromosome 9 · 9q34.2 · 133.3 Mb
Estimated prevalence by population
Global 3.8%; European 4.8%; African 1.9%; East Asian 4.2%; South Asian 2.6%; Americas 2.9%; Ashkenazi 4.7%; Finnish 5.0%; Middle Eastern 4.0%; Amish 23.7%.
Estimated CC genotype frequency.
Global 30.6%; European 34.2%; African 23.8%; East Asian 32.5%; South Asian 26.9%; Americas 28.3%; Ashkenazi 33.8%; Finnish 34.8%; Middle Eastern 32.1%; Amish 50.0%.
Estimated CT genotype frequency.
Global 65.6%; European 61.1%; African 74.3%; East Asian 63.3%; South Asian 70.6%; Americas 68.8%; Ashkenazi 61.5%; Finnish 60.1%; Middle Eastern 63.9%; Amish 26.3%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Cardiovascular & Metabolic
Heart Disease
Coronary Artery Disease. Evidence: 8/10. Source: PMID 21378990. ~1.2x Increased Risk.
Coagulation & Clotting
Venous Thromboembolism. Evidence: 8/10. Source: PMID 31420334. ~1.36x Risk.
Soluble P-Selectin. Evidence: 4/10. Source: PMID 20167578. Typical Levels.
Lipids & Cholesterol
LDL Cholesterol. Evidence: 8/10. Source: PMID 26582766. Higher Levels.
Total Cholesterol. Evidence: 8/10. Source: PMID 26582766. Higher Levels.
Showing effects for C/T genotype
Coronary Artery Disease. Evidence: 8/10. Source: PMID 21378990. ~1.1x Increased Risk.
Venous Thromboembolism. Evidence: 8/10. Source: PMID 31420334. Slightly Increased.
Soluble P-Selectin. Evidence: 4/10. Source: PMID 20167578. Slightly Higher.
LDL Cholesterol. Evidence: 8/10. Source: PMID 26582766. Slightly Higher.
Total Cholesterol. Evidence: 8/10. Source: PMID 26582766. Slightly Higher.
Showing effects for T/T genotype
Coronary Artery Disease. Evidence: 8/10. Source: PMID 21378990. Typical Risk.
Venous Thromboembolism. Evidence: 8/10. Source: PMID 31420334. Typical Risk.
Soluble P-Selectin. Evidence: 4/10. Source: PMID 20167578. ~14% Higher Levels.
LDL Cholesterol. Evidence: 8/10. Source: PMID 26582766. Typical Levels.
Total Cholesterol. Evidence: 8/10. Source: PMID 26582766. Typical Levels.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Homozygosity for the C allele is strongly associated with non-O blood groups, which are known to influence cardiovascular risk profiles [1]. Large-scale genetic studies show that this genetic profile is linked to elevated levels of both LDL and total cholesterol [2]. These lipid elevations contribute to a moderately increased risk of developing coronary artery disease [3]. Additionally, this specific variant is associated with a significantly higher risk of venous thromboembolism, or blood clots in the veins [4]. Research indicates that individuals with this genetic makeup tend to have lower levels of soluble cell adhesion molecules like E-selectin, which are involved in vascular inflammation [5]. Despite lower adhesion molecule levels, the overall cardiovascular risk profile remains elevated compared to other genotypes [6].
Higher risk of coronary artery disease; Elevated LDL and total cholesterol levels; Increased risk of venous blood clots.
Sample genotype: CT (Heterozygous)
Heterozygous carriers of the C and T alleles exhibit an intermediate cardiovascular risk profile [1]. This genetic combination is associated with slightly elevated levels of LDL and total cholesterol compared to the T/T genotype [2]. Consequently, clinical data shows a modest increase in the risk of coronary artery disease [3]. There is also a slight increase in the risk of developing venous thromboembolism [4]. Levels of soluble cell adhesion molecules, such as P-selectin and E-selectin, are typically intermediate as well [5]. While the risk is higher than that of the protective T/T genotype, it is lower than the risk associated with carrying two copies of the C allele [6].
Slightly increased risk of coronary artery disease; Moderately elevated cholesterol levels; Slightly higher risk of venous blood clots.
Sample genotype: TT (Homozygous)
Homozygosity for the T allele is strongly associated with blood group O, which is widely recognized for its protective cardiovascular effects [1]. This genetic profile is linked to lower circulating levels of LDL and total cholesterol [2]. As a result, clinical studies demonstrate a reduced risk of developing coronary artery disease [3]. The risk of venous thromboembolism is also significantly lower compared to carriers of the C allele [4]. Although this genotype is associated with higher levels of soluble cell adhesion molecules like E-selectin, this does not translate to increased cardiovascular risk [5]. Overall, this genetic profile is highly favorable for long-term heart and blood vessel health [6].
Lower risk of coronary artery disease; Favorable LDL and total cholesterol levels; Reduced risk of venous blood clots.
Variants with shared genetic architecture
rs507666 · ABO Gene · Chr 9 · Heart Disease Risk
rs550057 · ABO Gene · Chr 9 · COVID-19 Severity
rs495828 · ABO Gene · Chr 9 · Blood Clot Risk
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels.
Content updated August 2026.
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