What you carry at this position in your DNA and what research says about it.
Heart Disease Risk: 8/10 evidence, 16 publications.
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Sample genotype (not yours): T/T
Higher Heart Disease Risk
Carrying two copies of the T allele is associated with elevated LDL cholesterol levels and an increased risk of coronary artery disease. This profile suggests less efficient cholesterol excretion and higher absorption of dietary sterols.
What this genotype means: Elevated LDL and VLDL cholesterol levels; Increased risk of coronary artery disease; Higher absorption of dietary plant sterols.
Sample genotype (not yours): C/C
Typical Heart Disease Risk
Carrying two copies of the C allele is associated with typical LDL cholesterol levels and a lower risk of heart disease. This genotype supports efficient cholesterol excretion and limits dietary cholesterol absorption.
What this genotype means: Typical or lower LDL and VLDL cholesterol levels; Lower risk of coronary artery disease; Efficient excretion of dietary cholesterol.
Sample genotype (not yours): T/C
Moderately Higher Heart Disease Risk
Carrying one copy of the T allele is linked to moderately elevated LDL cholesterol and a slight increase in cardiovascular risk. This intermediate profile suggests a mild reduction in the body's ability to excrete excess cholesterol.
What this genotype means: Moderately elevated LDL cholesterol; Slightly increased risk of coronary artery disease; Slightly higher levels of circulating plant sterols.
Gene function and biological role
Gene Function: The ABCG8 gene encodes a half-transporter protein that plays a critical role in lipid homeostasis [1]. Working in tandem with ABCG5, this transporter forms a functional heterodimer expressed primarily in the liver and intestines [1]. In the intestinal tract, the ABCG8 complex limits the absorption of dietary cholesterol and plant sterols into the bloodstream [1]. In the liver, it facilitates the excretion of excess cholesterol and sterols into the bile for elimination [1]. Genetic variations in this gene can significantly alter the efficiency of cholesterol transport, directly impacting circulating lipid levels and cardiovascular health [2].
Variant Impact: The rs6544713 variant is an intronic change located within the ABCG8 gene on chromosome 2. Although it does not directly alter the amino acid sequence of the transporter protein, it is strongly linked to variations in gene expression and lipid levels [3]. The minor T allele is consistently associated with elevated levels of low-density lipoprotein (LDL) cholesterol and apolipoprotein B [4]. Conversely, the major C allele is associated with lower circulating cholesterol and a more favorable lipid profile [5]. This genetic marker is widely recognized as a key contributor to polygenic dyslipidemia and susceptibility to coronary artery disease [2].
Key Insight: This variant influences how much cholesterol your body absorbs from food versus how much it excretes, directly impacting your circulating LDL levels.
Location: ABCG8. Chromosome 2 · 2p21 · 43.8 Mb
Estimated prevalence by population
Global 6.6%; European 10.1%; African 2.6%; East Asian < 0.1%; South Asian 5.2%; Americas 5.6%; Ashkenazi 7.3%; Finnish 4.4%; Middle Eastern 11.1%; Amish 12.7%.
Estimated TT genotype frequency.
Global 35.7%; European 43.3%; African 27.2%; East Asian 1.2%; South Asian 35.3%; Americas 36.2%; Ashkenazi 39.5%; Finnish 33.0%; Middle Eastern 44.4%; Amish 45.9%.
Estimated TC genotype frequency.
Global 57.7%; European 46.6%; African 70.2%; East Asian 98.8%; South Asian 59.4%; Americas 58.2%; Ashkenazi 53.2%; Finnish 62.6%; Middle Eastern 44.4%; Amish 41.5%.
Estimated CC genotype frequency.
Showing effects for T/T genotype
Cardiovascular & Metabolic
Heart Disease
Heart Disease. Evidence: 8/10. Source: PMID 29212778. Increased Risk.
Lipids & Cholesterol
LDL Cholesterol. Evidence: 8/10. Source: PMID 19060906. Higher Levels.
VLDL Cholesterol. Evidence: 8/10. Source: PMID 35213538. Higher Levels.
Apolipoprotein B. Evidence: 6/10. Source: PMID 35213538. Higher Levels.
HDL Cholesterol. Evidence: 8/10. Source: PMID 35213538. Lower Levels.
Campesterol Levels. Evidence: 4/10. Source: PMID 35347128. Higher Absorption.
Showing effects for C/C genotype
Heart Disease. Evidence: 8/10. Source: PMID 29212778. Typical Risk.
LDL Cholesterol. Evidence: 8/10. Source: PMID 19060906. Typical Levels.
VLDL Cholesterol. Evidence: 8/10. Source: PMID 35213538. Typical Levels.
Apolipoprotein B. Evidence: 6/10. Source: PMID 35213538. Typical Levels.
HDL Cholesterol. Evidence: 8/10. Source: PMID 35213538. Typical Levels.
Campesterol Levels. Evidence: 4/10. Source: PMID 35347128. Typical Absorption.
Showing effects for T/C genotype
Heart Disease. Evidence: 8/10. Source: PMID 29212778. Moderately Higher.
LDL Cholesterol. Evidence: 8/10. Source: PMID 19060906. Moderately Higher.
VLDL Cholesterol. Evidence: 8/10. Source: PMID 35213538. Moderately Higher.
Apolipoprotein B. Evidence: 6/10. Source: PMID 35213538. Moderately Higher.
HDL Cholesterol. Evidence: 8/10. Source: PMID 35213538. Moderately Lower.
Campesterol Levels. Evidence: 4/10. Source: PMID 35347128. Moderately Higher.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
Carrying two copies of the T allele is associated with the highest genetic predisposition to elevated LDL cholesterol at this locus [1]. The T allele is linked to reduced efficiency in the ABCG8 transporter system, which may lead to increased absorption of dietary cholesterol and decreased excretion into bile [2]. Consequently, circulating levels of low-density lipoprotein (LDL) and very-low-density lipoprotein (VLDL) cholesterol are typically elevated [1] [3]. This lipid accumulation in the bloodstream increases the risk of plaque buildup in the arteries, a process known as atherosclerosis [4]. Large-scale genetic studies have confirmed a significant association between this genotype and an increased risk of coronary artery disease [4] [5]. Individuals with this profile may also show higher levels of apolipoprotein B and plant sterols like campesterol [3] [6]. Managing cardiovascular risk through a heart-healthy diet low in saturated fats and regular exercise is often recommended [2].
Elevated LDL and VLDL cholesterol levels; Increased risk of coronary artery disease; Higher absorption of dietary plant sterols.
Sample genotype: CC (Homozygous)
Carrying two copies of the C allele is associated with the most favorable lipid profile at this genetic locus [1]. This genotype represents the typical baseline for ABCG8 transporter function, which efficiently limits the absorption of dietary cholesterol in the intestines [2]. It also promotes the active excretion of excess cholesterol and plant sterols into the bile for elimination from the body [2]. As a result, circulating levels of low-density lipoprotein (LDL) and very-low-density lipoprotein (VLDL) cholesterol are typically lower [1] [3]. This efficient lipid clearance is associated with a reduced risk of developing arterial plaque and atherosclerosis [4]. Large-scale genome-wide association studies have consistently linked this genotype to a lower risk of coronary artery disease [4] [5]. Levels of apolipoprotein B and plant sterols like campesterol also tend to remain within typical, healthy ranges [3] [6]. Maintaining standard heart-healthy habits is generally sufficient to support this favorable genetic background [2].
Typical or lower LDL and VLDL cholesterol levels; Lower risk of coronary artery disease; Efficient excretion of dietary cholesterol.
Sample genotype: TC (Heterozygous)
Carrying one copy of the T allele and one copy of the C allele is associated with a moderate increase in LDL cholesterol levels [1]. Having this heterozygous profile typically results in intermediate transporter activity, leading to slightly higher absorption of dietary sterols compared to the typical genotype [2]. Circulating levels of low-density lipoprotein (LDL) and apolipoprotein B are often elevated above baseline [1] [3]. This elevation, even if modest, can contribute to a gradual accumulation of arterial plaque over time [4]. Clinical association studies have demonstrated a moderately increased risk of developing coronary artery disease for carriers of this single risk allele [4] [5]. Other lipid markers, such as VLDL cholesterol and campesterol, may also be slightly elevated [3] [6]. Emphasizing a balanced diet rich in soluble fiber and maintaining active lifestyle habits can help mitigate these genetic influences [2].
Moderately elevated LDL cholesterol; Slightly increased risk of coronary artery disease; Slightly higher levels of circulating plant sterols.
Variants with shared genetic architecture
rs11887534 · ABCG8 Gene · Chr 2 · Gallstone Risk
rs4245791 · ABCG8 Gene · Chr 2 · Gallstone Risk
rs4299376 · ABCG8 Gene · Chr 2 · Heart and Gallstone Risk
Genetic analyses of diverse populations improves discovery for complex traits.
Common variants at 30 loci contribute to polygenic dyslipidemia.
Large-scale association analysis identifies new risk loci for coronary artery disease.
Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.
Content updated August 2026.
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