What you carry at this position in your DNA and what research says about it.
Cholesterol and Lipid Levels: 10/10 evidence, 31 publications.
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Sample genotype (not yours): A/A
Typical Cholesterol and Triglyceride Levels
This genetic profile is associated with standard baseline levels of LDL cholesterol and triglycerides. There is no inherited increase in lipoprotein(a) or liver enzymes from this specific variant.
What this genotype means: Typical LDL cholesterol levels; Typical triglyceride levels; Standard liver enzyme levels.
Sample genotype (not yours): A/C
Slightly Higher LDL and Lower Triglycerides
Carrying one copy of the C allele leads to a mild trade-off in lipid levels. It is linked to slightly higher LDL cholesterol and lipoprotein(a), alongside slightly lower triglycerides.
What this genotype means: Slightly higher LDL cholesterol; Slightly lower triglycerides; Slightly higher lipoprotein(a).
Sample genotype (not yours): C/C
Higher LDL and Lipoprotein(a) but Lower Triglycerides
Carrying two copies of the C allele results in a distinct lipid trade-off. It is associated with elevated LDL cholesterol and lipoprotein(a), but significantly lower triglyceride levels.
What this genotype means: Higher LDL cholesterol; Significantly lower triglycerides; Higher lipoprotein(a).
Gene function and biological role
Gene Function: The APOH gene encodes apolipoprotein H, a multifunctional plasma glycoprotein also known as beta-2-glycoprotein I [1]. This protein is synthesized primarily in the liver and plays a key role in lipid metabolism, blood coagulation, and inflammatory responses [1]. It binds to negatively charged phospholipids and circulating lipoproteins, helping to regulate their clearance from the bloodstream [2]. Through these interactions, the gene significantly influences systemic lipid profiles and cardiovascular risk markers [2].
Variant Impact: The rs1801689 variant is a missense mutation in the APOH gene that changes the amino acid cysteine to glycine at position 325 [3]. This specific structural alteration disrupts the ability of apolipoprotein H to bind to phospholipids [3]. As a result, the clearance and metabolism of several key lipoproteins are altered [3]. This single change has a dual effect, leading to lower circulating triglycerides but higher levels of low-density lipoprotein and lipoprotein(a) [1].
Key Insight: The rs1801689 variant alters the physical structure of apolipoprotein H, creating a unique metabolic trade-off where it simultaneously lowers triglycerides but raises LDL cholesterol.
Location: APOH. Chromosome 17 · 17q24.2 · 66.2 Mb
Estimated prevalence by population
Global 95.5%; European 93.4%; African 98.7%; East Asian 99.9%; South Asian 96.8%; Americas 93.3%; Ashkenazi 87.8%; Finnish 98.9%; Middle Eastern 88.1%; Amish 99.8%.
Estimated AA genotype frequency.
Global 4.5%; European 6.5%; African 1.3%; East Asian 0.1%; South Asian 3.2%; Americas 6.6%; Ashkenazi 11.8%; Finnish 1.1%; Middle Eastern 11.5%; Amish 0.2%.
Estimated AC genotype frequency.
Global 0.1%; European 0.1%; African < 0.1%; East Asian < 0.1%; South Asian < 0.1%; Americas 0.1%; Ashkenazi 0.4%; Finnish < 0.1%; Middle Eastern 0.4%; Amish < 0.1%.
Estimated CC genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
LDL Cholesterol. Evidence: 10/10. Source: PMID 33462484. Typical.
Triglycerides. Evidence: 10/10. Source: PMID 33462484. Typical.
Lipoprotein(a) Levels. Evidence: 10/10. Source: PMID 33462484. Typical.
Total Cholesterol. Evidence: 10/10. Source: PMID 33462484. Typical.
Blood Cell & Iron Traits
Platelet Count. Evidence: 10/10. Source: PMID 32888493. Typical.
Organ Systems
Liver Function & Disease
Liver Enzyme Levels. Evidence: 9/10. Source: PMID 33462484. Typical.
Showing effects for A/C genotype
LDL Cholesterol. Evidence: 10/10. Source: PMID 33462484. Slightly Higher.
Triglycerides. Evidence: 10/10. Source: PMID 33462484. Slightly Lower.
Lipoprotein(a) Levels. Evidence: 10/10. Source: PMID 33462484. Slightly Higher.
Total Cholesterol. Evidence: 10/10. Source: PMID 33462484. Slightly Higher.
Platelet Count. Evidence: 10/10. Source: PMID 32888493. Slightly Higher.
Liver Enzyme Levels. Evidence: 9/10. Source: PMID 33462484. Slightly Higher.
Showing effects for C/C genotype
LDL Cholesterol. Evidence: 10/10. Source: PMID 33462484. Higher.
Triglycerides. Evidence: 10/10. Source: PMID 33462484. Lower.
Lipoprotein(a) Levels. Evidence: 10/10. Source: PMID 33462484. Higher.
Total Cholesterol. Evidence: 10/10. Source: PMID 33462484. Higher.
Platelet Count. Evidence: 10/10. Source: PMID 32888493. Higher.
Liver Enzyme Levels. Evidence: 9/10. Source: PMID 33462484. Higher.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Most people carry the A/A genotype, which represents the standard genetic baseline for the apolipoprotein H protein. With this profile, the protein retains its normal structure and binds efficiently to phospholipids in the bloodstream [1]. Consequently, baseline levels of low-density lipoprotein (LDL) cholesterol and lipoprotein(a) remain at typical population averages [1]. However, because this genotype lacks the triglyceride-lowering effect of the variant allele, baseline triglyceride levels may be slightly higher compared to carriers of the C allele [2]. Overall cardiovascular and liver enzyme profiles are typical and influenced primarily by diet, exercise, and other genetic factors [2].
Typical LDL cholesterol levels; Typical triglyceride levels; Standard liver enzyme levels.
Sample genotype: AC (Heterozygous)
Having one copy of the C allele means some circulating apolipoprotein H proteins have a modified structure that reduces phospholipid binding [1]. This structural change leads to a mild shift in the overall lipid profile [1]. Specifically, carriers tend to have slightly higher levels of LDL cholesterol and lipoprotein(a) in their blood [2]. Conversely, this same genetic change helps lower circulating triglycerides by altering how very-low-density lipoproteins are processed [2]. Liver enzyme levels, such as alanine aminotransferase, may also show a very minor elevation [2].
Slightly higher LDL cholesterol; Slightly lower triglycerides; Slightly higher lipoprotein(a).
Sample genotype: CC (Homozygous)
Individuals with the C/C genotype produce apolipoprotein H proteins that are entirely in the modified glycine-325 form, which severely limits phospholipid binding [1]. This complete structural shift has a pronounced impact on circulating lipids [1]. On one hand, it is linked to higher levels of LDL cholesterol, total cholesterol, and lipoprotein(a), which are established cardiovascular risk factors [2]. On the other hand, it significantly reduces circulating triglycerides and very-low-density lipoprotein levels [2]. Additionally, this genotype is associated with higher levels of liver enzymes like alanine aminotransferase, reflecting altered hepatic lipid processing [2].
Higher LDL cholesterol; Significantly lower triglycerides; Higher lipoprotein(a).
Variants with shared genetic architecture
rs1801690 · APOH Gene · Chr 17 · Thyroid and Heart Health
rs1077834 · LIPC Gene · Chr 15 · Cholesterol and Liver Health
rs2278426 · ANGPTL8 Gene · Chr 19 · Blood Lipid Levels
Genetics of 35 blood and urine biomarkers in the UK Biobank.
Content updated August 2026.
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