What you carry at this position in your DNA and what research says about it.
Cholesterol and Lipids: 10/10 evidence, 21 publications.
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Sample genotype (not yours): C/C
Favorable Lipid Profile and Lower Triglycerides
Lower baseline levels of triglycerides and LDL cholesterol characterize this genetic profile.
What this genotype means: Lower baseline triglycerides; Lower LDL cholesterol levels; Altered sensitivity to dietary cholesterol.
Sample genotype (not yours): C/T
Favorable Lipid Profile with One Protective Copy
A single copy of the C allele is associated with slightly lower triglycerides and LDL cholesterol compared to the typical baseline.
What this genotype means: Slightly lower baseline triglycerides; Slightly lower LDL cholesterol; Moderate sensitivity to dietary fats.
Sample genotype (not yours): T/T
Typical Lipid Profile and Baseline Cardiovascular Risk
The most common genetic profile globally, this genotype is associated with typical baseline levels of triglycerides and LDL cholesterol.
What this genotype means: Typical baseline triglycerides; Typical LDL cholesterol levels; Standard response to dietary fats.
Gene function and biological role
Gene Function: The APOB gene encodes apolipoprotein B, a primary protein component of low-density lipoprotein and very-low-density lipoprotein particles [1]. Apolipoprotein B is essential for the assembly, secretion, and transport of these lipid-carrying particles throughout the bloodstream [1]. It acts as a ligand for LDL receptors, enabling cells to bind and internalize cholesterol from circulation [1]. Genetic variations in this gene can alter how efficiently lipids are cleared from the blood, directly influencing baseline cholesterol levels and cardiovascular risk [2].
Variant Impact: A missense mutation in the APOB gene, rs1042034 results in the substitution of the amino acid serine with asparagine at position 4338 of the protein [3]. This structural change occurs in a key functional domain of apolipoprotein B, potentially modifying its interaction with lipid molecules or cell receptors [3]. Researchers have widely studied this variant for its association with circulating blood lipids, including triglycerides and LDL cholesterol [1]. It has also been shown to interact with dietary factors, altering how blood cholesterol levels respond to dietary cholesterol intake [3].
Key Insight: This variant acts as a genetic modifier of how your body processes dietary cholesterol, meaning your blood lipid levels may be more or less sensitive to the fats in your diet depending on your genotype.
Location: APOB. Chromosome 2 · 2p24.1 · 21.0 Mb
Estimated prevalence by population
Global 6.7%; European 4.7%; African 2.3%; East Asian 54.0%; South Asian 28.9%; Americas 5.2%; Ashkenazi 3.6%; Finnish 6.8%; Middle Eastern 9.4%; Amish 5.0%.
Estimated CC genotype frequency.
Global 32.8%; European 33.9%; African 25.7%; East Asian 39.0%; South Asian 49.7%; Americas 35.1%; Ashkenazi 30.6%; Finnish 38.6%; Middle Eastern 42.5%; Amish 34.7%.
Estimated CT genotype frequency.
Global 60.6%; European 61.4%; African 72.0%; East Asian 7.0%; South Asian 21.4%; Americas 59.7%; Ashkenazi 65.8%; Finnish 54.5%; Middle Eastern 48.1%; Amish 60.3%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
Triglycerides. Evidence: 10/10.
LDL Cholesterol. Evidence: 10/10. Source: PMID 29507422. Lower LDL.
Blood Cell & Iron Traits
Red Cell Distribution Width. Evidence: 9/10. Source: PMID 30595370. Slightly Higher.
Nutrition & Metabolism
Macronutrient Metabolism
Fatty Acid Levels. Evidence: 10/10. Source: PMID 38448586. Lower Levels.
Showing effects for C/T genotype
Triglycerides. Evidence: 10/10. Source: PMID 20686565. Slightly Lower.
LDL Cholesterol. Evidence: 10/10. Source: PMID 29507422. Slightly Lower LDL.
Red Cell Distribution Width. Evidence: 9/10. Source: PMID 30595370. Typical.
Fatty Acid Levels. Evidence: 10/10. Source: PMID 38448586. Slightly Lower.
Showing effects for T/T genotype
Triglycerides. Evidence: 10/10. Source: PMID 20686565. Typical.
LDL Cholesterol. Evidence: 10/10. Source: PMID 29507422. Typical LDL.
Fatty Acid Levels. Evidence: 10/10. Source: PMID 38448586. Typical.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
A more favorable cardiovascular lipid profile is linked to carrying two copies of the C allele [1]. Large-scale genome-wide association studies have consistently shown that the C allele is associated with lower circulating levels of triglycerides and LDL cholesterol [1] [2]. Additionally, research indicates that individuals with this genotype may have altered sensitivity to dietary cholesterol, meaning their blood lipid levels could be more responsive to changes in dietary fat intake [3]. Some studies also suggest that while this genotype is linked to slightly higher total cholesterol in younger populations, it may exert a protective effect on lipid metabolism later in life [4]. Overall, this genetic profile supports healthy lipid clearance from the bloodstream [1].
Lower baseline triglycerides; Lower LDL cholesterol levels; Altered sensitivity to dietary cholesterol.
Sample genotype: CT (Heterozygous)
An intermediate, yet still favorable, lipid profile generally results from having one copy of the C allele and one copy of the T allele [1]. You benefit from having one copy of the protective C allele, which is associated with lower circulating levels of triglycerides and LDL cholesterol compared to the common T/T genotype [1] [2]. This heterozygous profile is also linked to moderate sensitivity to dietary cholesterol, meaning your blood lipid levels may show a balanced response to dietary fat adjustments [3]. Research on lipid-related genes suggests that carrying at least one protective allele helps maintain efficient lipid clearance mechanisms [4]. It represents a balanced genetic influence on your overall cardiovascular biomarker levels [1].
Slightly lower baseline triglycerides; Slightly lower LDL cholesterol; Moderate sensitivity to dietary fats.
Sample genotype: TT (Homozygous)
The most common genetic profile across most global populations is defined by carrying two copies of the T allele [1]. This genotype is associated with typical baseline levels of circulating triglycerides, LDL cholesterol, and total cholesterol [2] [3]. ClinVar clinical evaluations have classified the T allele as benign, meaning it does not cause genetic lipid disorders like familial hypercholesterolemia [4]. While individuals with this genotype have slightly higher average lipid levels compared to those carrying the rare protective C allele, it represents the standard population baseline rather than an elevated risk state [2]. Standard lifestyle factors, such as diet and exercise, remain the primary drivers of cardiovascular health for individuals with this typical genetic background [3].
Typical baseline triglycerides; Typical LDL cholesterol levels; Standard response to dietary fats.
Variants with shared genetic architecture
rs1367117 · APOB Gene · Chr 2 · Cholesterol Levels
rs4665710 · APOB Gene · Chr 2 · Blood Lipid Levels
rs515135 · APOB Gene · Chr 2 · LDL Cholesterol Levels
Biological, clinical and population relevance of 95 loci for blood lipids.
A large electronic-health-record-based genome-wide study of serum lipids.
The role of lipid-related genes, aging-related processes, and environment in healthspan.
Content updated August 2026.
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