What you carry at this position in your DNA and what research says about it.
Heart Disease Risk: 8/10 evidence, 29 publications.
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Sample genotype (not yours): G/G
Typical Heart Disease and Cholesterol Risk
Baseline levels of LDL cholesterol and typical cardiovascular risk are expected. No genetic protection or elevated risk is inherited at this specific marker.
What this genotype means: Typical LDL cholesterol levels; Average risk of myocardial infarction.
Sample genotype (not yours): G/T
Lower Cholesterol and Reduced Heart Risk
A single copy of the protective T allele is associated with lower LDL cholesterol and reduced risk of heart disease. This genotype provides a natural advantage in clearing lipids from the bloodstream.
What this genotype means: Lower LDL cholesterol levels; Reduced risk of myocardial infarction; Lower lipoprotein(a) levels.
Sample genotype (not yours): T/T
Significantly Lower Cholesterol and Heart Risk
Two copies of the protective T allele are linked to the lowest levels of LDL cholesterol and a highly reduced risk of cardiovascular disease. This rare genotype offers strong natural protection against lipid buildup.
What this genotype means: Significantly lower LDL cholesterol levels; Highly reduced risk of myocardial infarction; Significantly lower lipoprotein(a) levels.
Gene function and biological role
Gene Function: The APOE gene encodes apolipoprotein E, a crucial protein involved in the metabolism of fats and cholesterol in the body. It plays a major role in packaging and transporting cholesterol through the bloodstream. Along with the neighboring APOC1 gene, it forms a gene cluster on chromosome 19 that is highly active in liver and brain tissues [1]. Variations in this region are among the strongest genetic determinants of circulating lipid levels and cardiovascular health [2].
Variant Impact: Located in an intergenic enhancer region between the APOE and APOC1 genes, rs1065853 is a genetic variant that influences the expression of these nearby lipid-regulating genes [3]. This single-nucleotide change is in extremely high linkage disequilibrium with the well-known APOE*2 allele, meaning it serves as a reliable proxy for this protective genetic variant [2]. The change from a G to a T allele alters transcription factor binding, which ultimately impacts how the body clears cholesterol from the blood [3].
Key Insight: This variant acts as a highly reliable genetic proxy for the protective APOE*2 allele, which is famous for lowering cardiovascular risk.
Location: APOE. Chromosome 19 · 19q13.32 · 44.9 Mb
Estimated prevalence by population
Global 84.5%; European 84.7%; African 78.4%; East Asian 84.4%; South Asian 92.7%; Americas 91.4%; Ashkenazi 86.5%; Finnish 91.8%; Middle Eastern 90.7%; Amish 97.6%.
Estimated GG genotype frequency.
Global 14.7%; European 14.7%; African 20.3%; East Asian 14.9%; South Asian 7.1%; Americas 8.4%; Ashkenazi 13.0%; Finnish 8.1%; Middle Eastern 9.1%; Amish 2.4%.
Estimated GT genotype frequency.
Global 0.7%; European 0.6%; African 1.3%; East Asian 0.7%; South Asian 0.1%; Americas 0.2%; Ashkenazi 0.5%; Finnish 0.2%; Middle Eastern 0.2%; Amish < 0.1%.
Estimated TT genotype frequency.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
LDL Cholesterol. Evidence: 10/10. Source: PMID 23696881. Typical Levels.
Lipoprotein(a) Levels. Evidence: 10/10. Source: PMID 33730874. Typical Levels.
Apolipoprotein A1. Evidence: 9/10. Source: PMID 35213538. Typical Levels.
Heart Disease
Heart Attack. Evidence: 8/10. Source: PMID 33532862. Typical Risk.
Hypertension
Hypertension. Evidence: 8/10. Source: PMID 38965376. Typical Risk.
Vascular Health & Aneurysm
Carotid Artery Thickness. Evidence: 6/10. Source: PMID 31801372. Typical Thickness.
Showing effects for G/T genotype
LDL Cholesterol. Evidence: 10/10. Source: PMID 23696881. Lower Levels.
Lipoprotein(a) Levels. Evidence: 10/10. Source: PMID 33730874. Lower Levels.
Apolipoprotein A1. Evidence: 9/10. Source: PMID 35213538. Higher Levels.
Heart Attack. Evidence: 8/10. Source: PMID 33532862. Lower Risk.
Hypertension. Evidence: 8/10. Source: PMID 38965376. Lower Risk.
Carotid Artery Thickness. Evidence: 6/10. Source: PMID 31801372. Reduced Thickness.
Showing effects for T/T genotype
LDL Cholesterol. Evidence: 10/10. Source: PMID 23696881. Significantly Lower.
Lipoprotein(a) Levels. Evidence: 10/10. Source: PMID 33730874. Significantly Lower.
Apolipoprotein A1. Evidence: 9/10. Source: PMID 35213538. Significantly Higher.
Heart Attack. Evidence: 8/10. Source: PMID 33532862. Significantly Lower.
Hypertension. Evidence: 8/10. Source: PMID 38965376. Significantly Lower.
Carotid Artery Thickness. Evidence: 6/10. Source: PMID 31801372. Significantly Reduced.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Inheriting two copies of the common G allele represents the standard genetic baseline for lipid metabolism. This genotype is associated with typical levels of low-density lipoprotein (LDL) cholesterol and average lifetime risk for cardiovascular events [1]. Unlike carriers of the protective T allele, those with the G/G genotype do not benefit from the enhanced clearance of atherogenic particles like lipoprotein(a) [2]. Consequently, maintaining standard heart-healthy habits remains important for long-term cardiovascular wellness.
Typical LDL cholesterol levels; Average risk of myocardial infarction.
Sample genotype: GT (Heterozygous)
Carrying one copy of the T allele is linked to significantly lower circulating levels of LDL cholesterol and total cholesterol [1]. This genetic variation acts as a proxy for the protective APOE*2 isoform, which enhances the liver's ability to clear cholesterol-rich particles from circulation [2]. Studies show that individuals with this genotype have a reduced risk of myocardial infarction and lower carotid artery thickness [1] [2]. The presence of the T allele also correlates with lower levels of lipoprotein(a), an independent risk factor for cardiovascular disease [2].
Lower LDL cholesterol levels; Reduced risk of myocardial infarction; Lower lipoprotein(a) levels.
Sample genotype: TT (Homozygous)
Inheriting two copies of the T allele is associated with the most pronounced reductions in LDL cholesterol, total cholesterol, and lipoprotein(a) levels [1]. This genotype serves as a strong genetic marker for the APOE*2/E2 phenotype, which is highly efficient at lowering cardiovascular risk factors [2]. Research indicates a substantially lower risk of myocardial infarction and reduced arterial plaque buildup in individuals with this profile [1] [2]. While highly protective against common heart disease, a very small subset of individuals with this genotype may require monitoring for a rare lipid clearance condition if other metabolic risk factors are present.
Significantly lower LDL cholesterol levels; Highly reduced risk of myocardial infarction; Significantly lower lipoprotein(a) levels.
Variants with shared genetic architecture
rs429358 · APOE Gene · Chr 19 · Alzheimer's Disease Risk
rs7412 · APOE Gene · Chr 19 · Cholesterol and Heart Risk
rs769449 · APOE Gene · Chr 19 · Alzheimer's Disease Risk
A genetic map of human metabolism across the allele frequency spectrum.
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
Content updated August 2026.
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