What you carry at this position in your DNA and what research says about it.
LDL Cholesterol and Heart Risk: 7/10 evidence, 17 publications.
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Sample genotype (not yours): C/C
Typical Cholesterol Levels and Heart Risk
Baseline genetic patterns at this locus are associated with standard levels of circulating low-density lipoprotein. There is no inherited reduction in cardiovascular risk from this specific variant.
What this genotype means: Standard LDL cholesterol clearance; Typical baseline risk of coronary artery disease.
Sample genotype (not yours): C/T
Lower LDL Cholesterol and Reduced Heart Risk
Carrying one copy of the minor allele is associated with a natural reduction in low-density lipoprotein levels. This lifelong reduction translates to a lower risk of coronary artery disease.
What this genotype means: Reduced LDL cholesterol levels; Lower risk of coronary artery disease.
Sample genotype (not yours): T/T
Lowest LDL Cholesterol and Optimal Heart Protection
Carrying two copies of the minor allele is associated with the greatest natural reduction in low-density lipoprotein levels. This provides the strongest genetic protection against coronary artery disease at this locus.
What this genotype means: Lowest LDL cholesterol levels; Lowest risk of coronary artery disease at this locus.
Gene function and biological role
Gene Function: Cholesterol homeostasis in the human body relies heavily on the low-density lipoprotein receptor encoded by the LDLR gene [1]. This receptor binds circulating low-density lipoprotein particles on cell surfaces and internalizes them, effectively clearing cholesterol from the bloodstream [2]. Severe mutations in this gene can disrupt this clearance process, leading to familial hypercholesterolemia and early-onset cardiovascular disease [3]. Common variations in the gene can also subtly tune receptor activity, influencing baseline lipid levels across the general population [1].
Variant Impact: Cellular uptake of circulating cholesterol is influenced by the rs2228671 variant, a synonymous change in the LDLR gene [1]. Although this genetic variation does not alter the final amino acid sequence of the receptor protein, it is strongly associated with differences in circulating lipid levels [4]. The minor T allele is linked to more efficient clearance of low-density lipoprotein from the blood [4]. This lifelong reduction in circulating cholesterol levels ultimately translates to a significantly lower risk of coronary artery disease [2].
Key Insight: Even though this genetic change is synonymous and does not alter the structure of the LDLR protein, it significantly influences how efficiently cells clear cholesterol from the blood, leading to a lifelong reduction in heart disease risk for carriers of the minor allele.
Location: LDLR. Chromosome 19 · 19p13.2 · 11.1 Mb
Estimated prevalence by population
Global 83.3%; European 77.5%; African 92.3%; East Asian 98.0%; South Asian 87.3%; Americas 83.2%; Ashkenazi 82.4%; Finnish 78.0%; Middle Eastern 77.6%; Amish 81.4%.
Estimated CC genotype frequency.
Global 15.7%; European 21.1%; African 7.6%; East Asian 2.0%; South Asian 12.3%; Americas 16.0%; Ashkenazi 16.8%; Finnish 20.6%; Middle Eastern 21.0%; Amish 17.6%.
Estimated CT genotype frequency.
Global 0.9%; European 1.4%; African 0.2%; East Asian < 0.1%; South Asian 0.4%; Americas 0.8%; Ashkenazi 0.9%; Finnish 1.4%; Middle Eastern 1.4%; Amish 1.0%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
LDL Cholesterol. Evidence: 6/10. Source: PMID 19060911. Typical.
Total Cholesterol. Evidence: 7/10. Source: PMID 19060911. Typical.
IDL Cholesterol. Evidence: 7/10. Source: PMID 32150548. Typical.
Heart Disease
Coronary Artery Disease. Evidence: 6/10. Source: PMID 19060911. Typical Risk.
Showing effects for C/T genotype
LDL Cholesterol. Evidence: 6/10. Source: PMID 19060911. ~0.19 mmol/L Lower.
Total Cholesterol. Evidence: 7/10. Source: PMID 19060911. Lower.
IDL Cholesterol. Evidence: 7/10. Source: PMID 32150548. Lower.
Coronary Artery Disease. Evidence: 6/10. Source: PMID 19060911. ~18% Lower Risk.
Showing effects for T/T genotype
LDL Cholesterol. Evidence: 6/10. Source: PMID 19060911. ~0.38 mmol/L Lower.
Total Cholesterol. Evidence: 7/10. Source: PMID 19060911. Lowest.
IDL Cholesterol. Evidence: 7/10. Source: PMID 32150548. Lowest.
Coronary Artery Disease. Evidence: 6/10. Source: PMID 19060911. ~33% Lower Risk.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Typical clearance rates of low-density lipoprotein cholesterol are maintained when only the common C allele is present [1]. Lacking the protective minor T allele means that circulating lipid levels remain at their standard baseline [2]. Over a lifetime, this standard exposure contributes to typical cardiovascular risk profiles [3]. While not actively harmful or pathogenic, this genotype does not confer the natural lipid-lowering advantages seen in carriers of the minor variant [2]. Maintaining standard cardiovascular health through diet, exercise, and regular checkups remains the primary way to manage risk [1].
Standard LDL cholesterol clearance; Typical baseline risk of coronary artery disease.
Sample genotype: CT (Heterozygous)
Circulating levels of low-density lipoprotein cholesterol are naturally lower when one copy of the minor T allele is present [1]. Research indicates this genetic variation helps clear cholesterol from the bloodstream more effectively [2]. This lifelong reduction in circulating lipids provides a protective effect against arterial plaque buildup [3]. Clinical studies have shown that carriers of this variant experience a significantly lower risk of coronary artery disease over their lifetime [3]. The reduction in cardiovascular risk is directly proportional to the lower levels of circulating LDL cholesterol [1].
Reduced LDL cholesterol levels; Lower risk of coronary artery disease.
Sample genotype: TT (Homozygous)
Enhanced clearance of low-density lipoprotein is most pronounced when two copies of the minor T allele are present [1]. Double copies of this variant are associated with the lowest levels of circulating low-density lipoprotein cholesterol [2]. This lifelong reduction in blood lipids significantly limits the accumulation of plaque within the coronary arteries [3]. Consequently, this genotype is associated with the lowest risk of coronary artery disease among all three groups [3]. The protective cardiovascular benefits are a direct result of enhanced clearance of LDL particles from the blood [2].
Lowest LDL cholesterol levels; Lowest risk of coronary artery disease at this locus.
Variants with shared genetic architecture
rs139624145 · LDLR Gene · Chr 19 · Familial Hypercholesterolemia
rs112029328 · LDLR Gene · Chr 19 · Familial Hypercholesterolemia
rs121908024 · LDLR Gene · Chr 19 · Severe Cholesterol Risk
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
LDL-cholesterol concentrations: a genome-wide association study.
Content updated August 2026.
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