What you carry at this position in your DNA and what research says about it.
Triglyceride Levels: 8/10 evidence, 9 publications.
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Sample genotype (not yours): C/C
Significantly Higher Triglyceride Levels and Heart Risk
Two copies of the C allele are linked to significantly elevated blood triglycerides. This genotype is associated with a substantially higher risk of hypertriglyceridemia and cardiovascular issues.
What this genotype means: Significantly higher blood triglyceride levels; Increased risk of hypertriglyceridemia; Elevated risk of metabolic syndrome.
Sample genotype (not yours): C/T
Increased Triglyceride Levels and Heart Risk
Carrying one copy of the C allele is linked to higher blood triglyceride levels. This genotype moderately increases the risk of hypertriglyceridemia and metabolic syndrome.
What this genotype means: Moderately higher blood triglyceride levels; Slightly increased risk of metabolic syndrome; Slightly higher LDL cholesterol.
Sample genotype (not yours): T/T
Typical Triglyceride Levels and Heart Risk
Two copies of the common T allele are associated with normal lipid metabolism. This genotype is linked to typical triglyceride levels and a standard risk of cardiovascular issues.
What this genotype means: Typical blood triglyceride levels; Standard risk of hypertriglyceridemia; Typical cardiovascular risk profile.
Gene function and biological role
Gene Function: The APOA5 gene encodes apolipoprotein A-V, a crucial component of lipoprotein particles that regulates plasma triglyceride levels [1]. It plays an essential role in accelerating the clearance of triglycerides from the bloodstream by activating the enzyme lipoprotein lipase [1]. Nearby, the BUD13 gene encodes a protein involved in pre-mRNA splicing, but genetic variation across this entire chromosome 11 region is tightly linked to lipid metabolism [2]. Studies show that genetic variations in this cluster significantly impact susceptibility to metabolic syndrome and coronary artery disease [3]. Consequently, this genomic region is widely recognized as a master regulator of circulating blood lipids [4].
Variant Impact: The rs1558861 variant is located in the intergenic region between the BUD13 and ZPR1 genes, adjacent to the APOA5 gene cluster on chromosome 11 [2]. This genetic marker is strongly associated with variations in blood lipid metabolites, particularly triglycerides and cholesteryl esters [1]. Research in diverse populations has demonstrated that the C allele of this variant significantly elevates the risk of hypertriglyceridemia [5]. It also influences susceptibility to metabolic syndrome and coronary artery disease by altering lipid clearance pathways [6].
Key Insight: The C allele is associated with a 1.74-fold higher risk of hypertriglyceridemia.
Location: APOA5. Chromosome 11 · 11q23.3 · 116.7 Mb
Estimated prevalence by population
Global 0.8%; European 0.5%; African < 0.1%; East Asian 5.5%; South Asian 3.8%; Americas 1.5%; Ashkenazi 0.9%; Finnish 0.7%; Middle Eastern 1.2%; Amish 1.1%.
Estimated CC genotype frequency.
Global 12.9%; European 13.2%; African 3.1%; East Asian 35.8%; South Asian 31.4%; Americas 21.8%; Ashkenazi 17.1%; Finnish 14.9%; Middle Eastern 19.4%; Amish 18.5%.
Estimated CT genotype frequency.
Global 86.3%; European 86.3%; African 96.9%; East Asian 58.7%; South Asian 64.8%; Americas 76.7%; Ashkenazi 82.0%; Finnish 84.4%; Middle Eastern 79.4%; Amish 80.4%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
Hypertriglyceridemia. Evidence: 4/10. Source: PMID 27599772. ~1.74x Risk.
Triglycerides. Evidence: 8/10. Source: PMID 18193046. Significantly Higher.
LDL Cholesterol. Evidence: 6/10. Source: PMID 20864672. Higher Levels.
Metabolic Syndrome & Insulin Resistance
Metabolic Syndrome. Evidence: 8/10. Source: PMID 38201907. Increased Risk.
Heart Disease
Coronary Artery Disease. Evidence: 5/10. Source: PMID 35915156. Increased Risk.
Showing effects for C/T genotype
Hypertriglyceridemia. Evidence: 4/10. Source: PMID 27599772. Increased Risk.
Triglycerides. Evidence: 8/10. Source: PMID 18193046. Moderately Higher.
LDL Cholesterol. Evidence: 6/10. Source: PMID 20864672. Slightly Higher.
Metabolic Syndrome. Evidence: 8/10. Source: PMID 38201907. Slightly Increased.
Coronary Artery Disease. Evidence: 5/10. Source: PMID 35915156. Slightly Increased.
Showing effects for T/T genotype
Hypertriglyceridemia. Evidence: 4/10. Source: PMID 27599772. Typical Risk.
Triglycerides. Evidence: 8/10. Source: PMID 18193046. Typical Levels.
LDL Cholesterol. Evidence: 6/10. Source: PMID 20864672. Typical Levels.
Metabolic Syndrome. Evidence: 8/10. Source: PMID 38201907. Typical Risk.
Coronary Artery Disease. Evidence: 5/10. Source: PMID 35915156. Typical Risk.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Possessing two copies of the C allele is strongly associated with impaired triglyceride clearance and elevated blood lipid levels [1]. Research shows that this genotype carries a 1.74-fold increased risk of hypertriglyceridemia [2]. The accumulation of triglycerides and other lipid metabolites in the blood can lead to metabolic syndrome [3]. This genetic profile is also linked to higher levels of LDL cholesterol and a greater susceptibility to coronary artery disease [4]. Individuals with this genotype may experience a poorer response to standard lipid-lowering therapies [5]. Emphasizing a heart-healthy lifestyle, including a low-fat diet and regular cardiovascular exercise, is highly recommended to mitigate these risks [6].
Significantly higher blood triglyceride levels; Increased risk of hypertriglyceridemia; Elevated risk of metabolic syndrome.
Sample genotype: CT (Heterozygous)
A single copy of the C allele is associated with less efficient clearance of triglycerides from the bloodstream [1]. This genetic variation leads to moderately elevated levels of circulating triglycerides and certain cholesteryl esters [2]. Clinical studies indicate that carrying this allele increases the susceptibility to hypertriglyceridemia compared to the typical T/T genotype [3]. It is also associated with higher levels of LDL cholesterol and an increased risk of developing metabolic syndrome [4]. Over time, these lipid imbalances can contribute to a higher risk of coronary artery disease [5]. Managing dietary fat intake and staying physically active are particularly beneficial for individuals with this genetic profile [6].
Moderately higher blood triglyceride levels; Slightly increased risk of metabolic syndrome; Slightly higher LDL cholesterol.
Sample genotype: TT (Homozygous)
Having two copies of the T allele represents the baseline genetic profile for lipid regulation at this locus [1]. This genotype is associated with efficient clearance of triglycerides from the bloodstream, maintaining typical levels of circulating lipids [1]. Large-scale genome-wide association studies show that individuals with this profile do not have the elevated risk of hypertriglyceridemia seen in carriers of the C allele [2]. Furthermore, this genetic background is linked to typical levels of LDL cholesterol and a standard baseline risk for coronary artery disease [3]. Maintaining a balanced diet and regular exercise helps support this natural lipid clearance process [4].
Typical blood triglyceride levels; Standard risk of hypertriglyceridemia; Typical cardiovascular risk profile.
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
Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.
A Genome-Wide Association Study of Metabolic Syndrome in the Taiwanese Population.
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
Genetic analyses of diverse populations improves discovery for complex traits.
Genome-wide association study of metabolic syndrome in Korean populations.
Content updated August 2026.
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