What you carry at this position in your DNA and what research says about it.
Cholesterol and Lipid Levels: 10/10 evidence, 15 publications.
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Sample genotype (not yours): A/A
Lower LDL and Total Cholesterol Levels
Carrying two copies of the A allele is associated with lower levels of LDL cholesterol, total cholesterol, and triglycerides. This genetic profile is generally protective against elevated blood lipids.
What this genotype means: Lower LDL cholesterol; Lower total cholesterol; Reduced circulating triglycerides.
Sample genotype (not yours): A/G
Typical LDL and Total Cholesterol Levels
Carrying one copy of each allele is associated with typical, average levels of LDL and total cholesterol. This intermediate genetic profile represents a balanced baseline risk for lipid-related health outcomes.
What this genotype means: Typical LDL cholesterol levels; Typical total cholesterol levels; Typical triglyceride levels.
Sample genotype (not yours): G/G
Higher LDL and Total Cholesterol Levels
Carrying two copies of the G allele is associated with elevated levels of LDL cholesterol, total cholesterol, and triglycerides. This genetic profile may contribute to a higher baseline risk of developing cardiovascular issues over time.
What this genotype means: Elevated LDL cholesterol; Higher total cholesterol; Increased circulating triglycerides.
Gene function and biological role
Gene Function: The APOB gene encodes apolipoprotein B, a primary structural protein found in several types of lipid particles, including low-density lipoprotein (LDL) and very-low-density lipoprotein (VLDL). Apolipoprotein B is essential for the assembly, transport, and clearance of these cholesterol-carrying particles from the bloodstream. It acts as a ligand for LDL receptors, allowing cells to bind and internalize cholesterol [1]. Variations in or near this gene can significantly alter how efficiently the body processes and clears circulating fats [1]. Consequently, APOB is a major genetic determinant of blood lipid profiles and cardiovascular health [2].
Variant Impact: The rs562338 variant is an intergenic single nucleotide polymorphism located near the APOB gene on chromosome 2 [1]. This genetic change is situated in a region that influences the expression and regulation of apolipoprotein B [3]. Large-scale genomic studies have repeatedly linked this variant to alterations in circulating lipid levels, including LDL cholesterol and triglycerides [4]. The G allele is consistently associated with higher levels of these atherogenic particles [4]. Understanding this variant helps clarify individual baseline genetic tendencies toward elevated cholesterol [2].
Key Insight: Every single atherogenic lipid particle in the blood contains exactly one molecule of apolipoprotein B, making it a highly precise marker of cardiovascular risk.
Location: APOB. Chromosome 2 · 2p24.1 · 21.1 Mb
Estimated prevalence by population
Global 12.3%; European 3.4%; African 35.6%; East Asian < 0.1%; South Asian 2.4%; Americas 4.3%; Ashkenazi 9.5%; Finnish 3.4%; Middle Eastern 3.6%; Amish 0.9%.
Estimated AA genotype frequency.
Global 34.5%; European 30.1%; African 48.1%; East Asian 1.2%; South Asian 26.0%; Americas 32.9%; Ashkenazi 42.6%; Finnish 30.2%; Middle Eastern 30.8%; Amish 16.9%.
Estimated AG genotype frequency.
Global 53.2%; European 66.5%; African 16.3%; East Asian 98.8%; South Asian 71.6%; Americas 62.8%; Ashkenazi 48.0%; Finnish 66.3%; Middle Eastern 65.5%; Amish 82.2%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
LDL Cholesterol. Evidence: 10/10. Source: PMID 18193043. Lower LDL.
Total Cholesterol. Evidence: 10/10. Source: PMID 29507422. Lower Cholesterol.
Triglycerides. Evidence: 9/10. Source: PMID 27790247. Lower Triglycerides.
Showing effects for A/G genotype
LDL Cholesterol. Evidence: 10/10. Source: PMID 18193043. Typical LDL.
Total Cholesterol. Evidence: 10/10. Source: PMID 29507422. Typical Cholesterol.
Triglycerides. Evidence: 9/10. Source: PMID 27790247. Typical Triglycerides.
Showing effects for G/G genotype
LDL Cholesterol. Evidence: 10/10. Source: PMID 18193043. Higher LDL.
Total Cholesterol. Evidence: 10/10. Source: PMID 29507422. Higher Cholesterol.
Triglycerides. Evidence: 9/10. Source: PMID 27790247. Higher Triglycerides.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
This genotype is associated with a favorable lipid profile, characterized by lower levels of circulating LDL cholesterol and total cholesterol [1]. Genome-wide association studies show that lacking the G allele correlates with reduced concentrations of atherogenic lipid particles [2]. This includes lower levels of triglycerides, free cholesterol, and intermediate-density lipoprotein (IDL) cholesterol [3]. A lower concentration of these particles generally reduces the likelihood of arterial plaque accumulation and supports overall cardiovascular health [4]. Interestingly, a small-scale proteogenomic study in a specific population suggested a potential association with altered serum proteins in coronary artery disease cases, but massive global cohorts consistently highlight the lipid-lowering benefits of this genotype [5]. Maintaining a heart-healthy diet and active lifestyle can further enhance the natural cardiovascular advantages of this genetic profile [4].
Lower LDL cholesterol; Lower total cholesterol; Reduced circulating triglycerides.
Sample genotype: AG (Heterozygous)
This heterozygous genotype represents an intermediate state between the higher-risk G/G genotype and the lower-risk A/A genotype [1]. Individuals with this profile typically exhibit average circulating levels of LDL cholesterol, total cholesterol, and triglycerides [2]. Because they carry one copy of the G allele, they may have a very slight, baseline elevation in lipid levels compared to those with the A/A genotype, but it is generally within the normal range [2] [3]. The presence of one A allele helps mitigate some of the lipid-increasing effects associated with the G allele [3]. Overall, this genetic profile does not strongly predispose an individual to either exceptionally high or exceptionally low cholesterol levels [4]. Standard cardiovascular health guidelines and routine lipid panels remain the most effective way to monitor actual blood lipid levels.
Typical LDL cholesterol levels; Typical total cholesterol levels; Typical triglyceride levels.
Sample genotype: GG (Homozygous)
This genotype is associated with a consistent increase in circulating lipid levels, particularly low-density lipoprotein (LDL) cholesterol [1]. Large-scale genome-wide association studies have demonstrated that the G allele raises LDL cholesterol by approximately 0.04 mmol/L per copy [2]. This elevation extends to other atherogenic particles, including total cholesterol, triglycerides, and intermediate-density lipoprotein (IDL) cholesterol [2] [3]. Because apolipoprotein B is the primary structural component of these particles, higher levels reflect a greater number of circulating lipid carriers in the bloodstream. Over time, elevated LDL and total cholesterol can contribute to plaque buildup in the arteries, increasing the risk of coronary artery disease [4]. However, genetic risk is only one component of cardiovascular health, and lifestyle factors play a major role [4].
Elevated LDL cholesterol; Higher total cholesterol; Increased circulating triglycerides.
Variants with shared genetic architecture
rs1042034 · APOB Gene · Chr 2 · Cholesterol and Lipids
rs1367117 · APOB Gene · Chr 2 · Cholesterol Levels
rs4665710 · APOB Gene · Chr 2 · Blood Lipid Levels
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
Positive correlation between variants of lipid metabolism‑related genes and coronary heart disease.
Genetically regulated gene expression underlies lipid traits in Hispanic cohorts.
A large electronic-health-record-based genome-wide study of serum lipids.
Genetic analyses of diverse populations improves discovery for complex traits.
Content updated August 2026.
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