What you carry at this position in your DNA and what research says about it.
Triglyceride Levels: 9/10 evidence, 23 publications.
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Sample genotype (not yours): C/C
Typical Triglyceride Levels and Heart Risk
Standard genetic profile is associated with normal triglyceride levels and a typical baseline risk for cardiovascular conditions.
What this genotype means: Typical triglyceride clearance; Standard baseline cardiovascular risk.
Sample genotype (not yours): A/A
Significantly Elevated Triglycerides and Heart Risk
Carrying two copies of the A allele is strongly associated with very high triglyceride levels and a significantly increased risk of cardiovascular disease.
What this genotype means: Significantly higher circulating triglycerides; Elevated risk of coronary artery disease.
Sample genotype (not yours): C/A
Elevated Triglycerides and Higher Heart Risk
Carrying one copy of the A allele is linked to higher triglyceride levels and an increased risk of cardiovascular issues.
What this genotype means: Higher circulating triglycerides; Increased risk of coronary artery disease.
Gene function and biological role
Gene Function: The APOA5 gene encodes apolipoprotein A-V, a specialized protein that plays a pivotal role in regulating plasma triglyceride levels [1]. This protein is primarily secreted by the liver and associates with lipoprotein particles in the bloodstream [2]. It acts as an accelerator for lipoprotein lipase, the primary enzyme responsible for breaking down circulating fats [3]. Proper functioning of this gene is essential for maintaining healthy lipid profiles and preventing the accumulation of excess fats in blood vessels [4].
Variant Impact: The rs2075291 variant is a missense mutation in the APOA5 gene that changes the amino acid glycine to cysteine at position 185 [1]. This structural alteration impairs the protein's ability to interact with lipids and stimulate fat-clearing enzymes [2]. As a result, the body's natural mechanism for removing triglycerides from circulation becomes less efficient [3]. This specific genetic change is highly relevant in East Asian populations, where it is a well-established risk factor for severe hypertriglyceridemia [5].
Key Insight: This single letter change in the APOA5 gene can cause triglyceride levels to spike significantly, particularly in people of East Asian descent.
Location: APOA5. Chromosome 11 · 11q23.3 · 116.8 Mb
Estimated prevalence by population
Global 99.3%; European > 99.9%; African 99.6%; East Asian 87.2%; South Asian 97.9%; Americas 99.9%; Ashkenazi 100.0%; Finnish 99.9%; Middle Eastern 100.0%; Amish 100.0%.
Estimated CC genotype frequency.
Global 0.6%; European < 0.1%; African 0.4%; East Asian 12.4%; South Asian 2.1%; Americas 0.1%; Ashkenazi 0.0%; Finnish 0.1%; Middle Eastern 0.0%; Amish 0.0%.
Estimated CA genotype frequency.
Global < 0.1%; European < 0.1%; African < 0.1%; East Asian 0.4%; South Asian < 0.1%; Americas < 0.1%; Ashkenazi 0.0%; Finnish < 0.1%; Middle Eastern 0.0%; Amish 0.0%.
Estimated AA genotype frequency.
Showing effects for C/C genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
Triglycerides. Evidence: 9/10. Source: PMID 29507422. Typical.
HDL Cholesterol. Evidence: 10/10. Source: PMID 29507422. Typical.
Heart Disease
Heart Disease. Evidence: 6/10. Source: PMID 29263402. Typical Risk.
Metabolic Syndrome & Insulin Resistance
Metabolic Syndrome. Evidence: 4/10. Source: PMID 31170924. Typical Risk.
Showing effects for A/A genotype
Triglycerides. Evidence: 9/10. Source: PMID 29507422. Significantly Higher.
HDL Cholesterol. Evidence: 10/10. Source: PMID 29507422. Significantly Lower.
Heart Disease. Evidence: 6/10. Source: PMID 29263402. Elevated Risk.
Metabolic Syndrome. Evidence: 4/10. Source: PMID 31170924. Elevated Risk.
Showing effects for C/A genotype
Triglycerides. Evidence: 9/10. Source: PMID 29507422. Higher.
HDL Cholesterol. Evidence: 10/10. Source: PMID 29507422. Lower.
Heart Disease. Evidence: 6/10. Source: PMID 29263402. ~1.6x Higher Risk.
Metabolic Syndrome. Evidence: 4/10. Source: PMID 31170924. ~2.1x Higher Risk.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Two copies of the common C allele are associated with typical lipid metabolism and standard baseline cardiovascular risk [1]. Apolipoprotein A5 plays a critical role in helping the body break down circulating fats, and this version of the gene functions at a normal, healthy rate [2]. Research shows that individuals with this genotype maintain typical high-density lipoprotein (HDL) levels and standard triglyceride levels [3]. Because this is the most common genetic profile globally, it serves as the baseline comparison group in clinical studies [4]. Maintaining a balanced diet and regular exercise helps support this natural metabolic baseline.
Typical triglyceride clearance; Standard baseline cardiovascular risk.
Sample genotype: AA (Homozygous)
Two copies of the A allele severely impact the function of apolipoprotein A5, leading to a drastically reduced ability to clear fats from the blood [1]. This genetic combination is strongly linked to severe hypertriglyceridemia, where circulating fat levels can be many times higher than normal [2]. Consequently, this profile is associated with a significantly elevated risk of coronary artery disease and metabolic syndrome [3]. Although this homozygous genotype is rare globally, it is most frequently observed in East Asian populations [4].
Significantly higher circulating triglycerides; Elevated risk of coronary artery disease.
Sample genotype: CA (Heterozygous)
One copy of the altered A allele reduces the efficiency of apolipoprotein A5 in clearing fats from the bloodstream [1]. This slower clearance typically leads to elevated triglyceride levels and a corresponding decrease in protective HDL cholesterol [2]. Clinical studies indicate that this genetic profile is associated with a moderately higher risk of developing coronary artery disease and metabolic syndrome [3]. The effect is most pronounced and widely studied in individuals of East Asian ancestry, where the variant is more common [4].
Higher circulating triglycerides; Increased risk of coronary artery disease.
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
A large electronic-health-record-based genome-wide study of serum lipids.
Genetic analyses of diverse populations improves discovery for complex traits.
Overweight modulates APOE and APOA5 alleles on the risk of severe hypertriglyceridemia.
Content updated August 2026.
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