What you carry at this position in your DNA and what research says about it.
Triglyceride Levels: 8/10 evidence, 13 publications.
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Sample genotype (not yours): T/T
Significantly Higher Triglycerides and Metabolic Risk
Two copies of the minor T allele are linked to elevated triglyceride and VLDL cholesterol levels. This genotype also increases the risk of developing metabolic syndrome.
What this genotype means: Significantly elevated triglyceride levels; Increased risk of metabolic syndrome; Higher VLDL cholesterol levels.
Sample genotype (not yours): C/C
Typical Triglycerides and Lower Metabolic Risk
Two copies of the major C allele are associated with typical triglyceride levels and a lower risk of metabolic syndrome. This is the most common genetic profile globally.
What this genotype means: Typical triglyceride and VLDL levels; Lower risk of metabolic syndrome; Standard cardiovascular risk profile.
Sample genotype (not yours): T/C
Moderately Higher Triglycerides and Metabolic Risk
One copy of the minor T allele is associated with moderately elevated triglyceride and VLDL cholesterol levels. This genotype also slightly increases the risk of metabolic syndrome.
What this genotype means: Moderately elevated triglyceride levels; Slightly increased risk of metabolic syndrome; Elevated VLDL cholesterol levels.
Gene function and biological role
Gene Function: Apolipoprotein A5 (APOA5) is a key regulator of plasma triglyceride levels [1]. It is primarily expressed in the liver and associates with lipoprotein particles like VLDL, HDL, and chylomicrons [2]. The apoA-V protein promotes the clearance of triglycerides from the bloodstream by activating lipoprotein lipase, an enzyme that breaks down fats [3]. Reduced expression or activity of APOA5 leads to impaired lipid clearance, resulting in elevated circulating triglycerides [4].
Variant Impact: Located within an intron of the APOA5 gene, rs2072560 is a genetic change that influences apolipoprotein A-V expression [1]. This variant is part of a common haplotype that modulates the clearance of triglyceride-rich lipoproteins [2]. Carrying the minor T allele is associated with reduced apoA-V production, leading to slower breakdown of dietary fats [4]. Consequently, this variant significantly impacts circulating lipid concentrations and metabolic health [5].
Key Insight: The minor T allele of this variant is linked to a significant increase in VLDL and triglyceride levels, which are key markers for cardiovascular risk.
Location: APOA5. Chromosome 11 · 11q23.3 · 116.8 Mb
Estimated prevalence by population
Global 0.7%; European 0.4%; African < 0.1%; East Asian 5.4%; South Asian 3.0%; Americas 1.2%; Ashkenazi 0.8%; Finnish 0.6%; Middle Eastern 1.0%; Amish 0.5%.
Estimated TT genotype frequency.
Global 11.9%; European 12.0%; African 2.8%; East Asian 35.6%; South Asian 28.7%; Americas 19.5%; Ashkenazi 16.1%; Finnish 14.8%; Middle Eastern 17.8%; Amish 12.9%.
Estimated TC genotype frequency.
Global 87.5%; European 87.6%; African 97.2%; East Asian 59.0%; South Asian 68.3%; Americas 79.3%; Ashkenazi 83.1%; Finnish 84.6%; Middle Eastern 81.3%; Amish 86.7%.
Estimated CC genotype frequency.
Showing effects for T/T genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
Triglycerides. Evidence: 5/10. Source: PMID 34503513. Significantly Higher.
VLDL Cholesterol. Evidence: 4/10. Source: PMID 32150548. Significantly Higher.
Metabolic Syndrome & Insulin Resistance
Metabolic Syndrome. Evidence: 8/10. Source: PMID 38201907. Increased Risk.
Nutrition & Metabolism
Macronutrient Metabolism
Saturated Fatty Acids. Evidence: 4/10. Source: PMID 40545721. Altered Levels.
Showing effects for C/C genotype
Triglycerides. Evidence: 5/10. Source: PMID 34503513. Typical.
VLDL Cholesterol. Evidence: 4/10. Source: PMID 32150548. Typical.
Metabolic Syndrome. Evidence: 8/10. Source: PMID 38201907. Typical Risk.
Saturated Fatty Acids. Evidence: 4/10. Source: PMID 40545721. Typical.
Showing effects for T/C genotype
Triglycerides. Evidence: 5/10. Source: PMID 34503513. Moderately Higher.
VLDL Cholesterol. Evidence: 4/10. Source: PMID 32150548. Moderately Higher.
Metabolic Syndrome. Evidence: 8/10. Source: PMID 38201907. Slightly Increased.
Saturated Fatty Acids. Evidence: 4/10. Source: PMID 40545721. Slightly Altered.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
Presence of the T/T genotype is associated with a pronounced increase in circulating triglycerides and very low-density lipoprotein (VLDL) cholesterol [1]. Research indicates that this genetic variation in the APOA5 gene reduces the efficiency of lipid clearance from the bloodstream [2]. Individuals with this genotype are at a significantly higher risk of developing metabolic syndrome, a cluster of conditions that raise the risk of heart disease and type 2 diabetes [3]. The elevated lipid levels are primarily driven by a reduced ability to activate lipoprotein lipase, which is essential for breaking down fats [4]. Managing dietary fat intake and maintaining an active lifestyle are particularly important for individuals with this genetic profile.
Significantly elevated triglyceride levels; Increased risk of metabolic syndrome; Higher VLDL cholesterol levels.
Sample genotype: CC (Homozygous)
Presence of the C/C genotype is associated with typical, healthy clearance of triglycerides and VLDL cholesterol from the bloodstream [1]. This genotype represents the baseline genetic profile for the majority of the global population, ensuring normal production and function of the apolipoprotein A-V protein [2]. Consequently, individuals with this profile have a lower risk of developing metabolic syndrome compared to those carrying the T allele [3]. The efficient breakdown of circulating fats helps maintain optimal cardiovascular health and lipid homeostasis [4]. Standard dietary and lifestyle guidelines are generally sufficient to support healthy lipid levels for individuals with this genotype.
Typical triglyceride and VLDL levels; Lower risk of metabolic syndrome; Standard cardiovascular risk profile.
Sample genotype: TC (Heterozygous)
Presence of the T/C genotype is linked to moderate increases in circulating triglycerides and VLDL cholesterol compared to the typical genotype [1]. This heterozygous state results in a partial reduction of apolipoprotein A-V activity, leading to slightly less efficient clearance of dietary fats from the blood [2]. Studies have shown that carriers of one T allele have an elevated risk of metabolic syndrome and related cardiovascular markers [3]. While the effect is less pronounced than in individuals with two copies of the T allele, it still represents a notable shift in lipid metabolism [4]. Lifestyle factors, such as a balanced diet low in simple sugars and regular exercise, can help mitigate these genetic risks.
Moderately elevated triglyceride levels; Slightly increased risk of metabolic syndrome; Elevated VLDL cholesterol levels.
Variants with shared genetic architecture
rs2266788 · APOA5 Gene · Chr 11 · Triglyceride Levels
rs3135506 · APOA5 Gene · Chr 11 · Triglyceride and Lipid Levels
rs651821 · APOA5 Gene · Chr 11 · Triglyceride Levels
The influence of rare variants in circulating metabolic biomarkers.
A Genome-Wide Association Study of Metabolic Syndrome in the Taiwanese Population.
Content updated August 2026.
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