What you carry at this position in your DNA and what research says about it.
Cholesterol and Heart Risk: 6/10 evidence, 24 publications.
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Sample genotype (not yours): G/G
Typical Cholesterol and Lower Heart Risk
Carrying two copies of the G allele is associated with higher haptoglobin levels and lower circulating LDL cholesterol. This genetic profile is linked to a slightly reduced risk of coronary artery disease.
What this genotype means: Higher circulating haptoglobin levels; Lower LDL and total cholesterol; Reduced risk of coronary artery disease.
Sample genotype (not yours): A/A
Elevated Cholesterol and Higher Heart Risk
Carrying two copies of the A allele is associated with significantly lower haptoglobin levels and higher LDL cholesterol. This genotype is linked to an increased risk of coronary artery disease.
What this genotype means: Significantly lower haptoglobin levels; Elevated LDL and total cholesterol; Increased risk of coronary artery disease.
Sample genotype (not yours): G/A
Slightly Elevated Cholesterol and Heart Risk
Carrying one copy of the A allele is associated with slightly lower haptoglobin levels and a mild increase in LDL cholesterol. This genotype is linked to a slightly higher risk of coronary artery disease.
What this genotype means: Slightly lower haptoglobin levels; Mildly elevated LDL cholesterol; Slightly increased risk of coronary artery disease.
Gene function and biological role
Gene Function: The HPR gene encodes haptoglobin-related protein, which is structurally similar to haptoglobin and plays a key role in the innate immune system. This protein binds to hemoglobin and is a component of apolipoprotein L-containing high-density lipoprotein particles, which are involved in lipid metabolism. HPR is located in a gene cluster on chromosome 16 alongside the HP gene, which encodes haptoglobin [1]. Together, these genes influence how the body clears free hemoglobin and manages circulating lipids [2].
Variant Impact: The rs2000999 variant is located in the HPR gene region and is one of the strongest known genetic regulators of circulating haptoglobin levels [3]. The G allele is associated with higher haptoglobin expression, which helps clear free hemoglobin and prevents oxidative damage to lipids [1]. Conversely, the A allele is linked to reduced haptoglobin levels, leading to increased oxidative stress on lipid particles [3]. This reduction in antioxidant protection contributes to higher circulating cholesterol and an increased risk of cardiovascular disease [1].
Key Insight: This genetic variant acts as a bridge between inflammation and cardiovascular health by regulating haptoglobin, which protects cholesterol particles from oxidative damage.
Location: HPR. Chromosome 16 · 16q22.2 · 72.1 Mb
Estimated prevalence by population
Global 69.5%; European 64.1%; African 87.4%; East Asian 51.3%; South Asian 36.6%; Americas 67.0%; Ashkenazi 57.2%; Finnish 66.0%; Middle Eastern 52.5%; Amish 83.2%.
Estimated GG genotype frequency.
Global 27.0%; European 31.9%; African 12.1%; East Asian 40.6%; South Asian 47.8%; Americas 29.7%; Ashkenazi 36.8%; Finnish 30.5%; Middle Eastern 39.9%; Amish 16.0%.
Estimated GA genotype frequency.
Global 3.4%; European 4.0%; African 0.4%; East Asian 8.0%; South Asian 15.6%; Americas 3.3%; Ashkenazi 5.9%; Finnish 3.5%; Middle Eastern 7.6%; Amish 0.8%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
LDL Cholesterol. Evidence: 10/10. Source: PMID 20686565. Lower Levels.
Triglycerides. Evidence: 10/10. Source: PMID 33462484. Lower Levels.
Heart Disease
Heart Disease. Evidence: 6/10. Source: PMID 32469254. Lower Risk.
Blood Cell & Iron Traits
Haptoglobin Levels. Evidence: 6/10. Source: PMID 22403646. Higher Levels.
Showing effects for A/A genotype
LDL Cholesterol. Evidence: 10/10. Source: PMID 20686565. Higher Levels.
Triglycerides. Evidence: 10/10. Source: PMID 33462484. Higher Levels.
Heart Disease. Evidence: 6/10. Source: PMID 32469254. Higher Risk.
Haptoglobin Levels. Evidence: 6/10. Source: PMID 22403646. Lower Levels.
Showing effects for G/A genotype
LDL Cholesterol. Evidence: 10/10. Source: PMID 20686565. Slightly Higher.
Triglycerides. Evidence: 10/10. Source: PMID 33462484. Slightly Higher.
Heart Disease. Evidence: 6/10. Source: PMID 32469254. Slightly Higher Risk.
Haptoglobin Levels. Evidence: 6/10. Source: PMID 22403646. Slightly Lower.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Having the G/G genotype means possessing two copies of the major allele, which is associated with optimal haptoglobin production [1]. Haptoglobin plays a vital role in binding free hemoglobin, preventing it from causing oxidative damage to blood vessels and lipid particles [2]. Because of this enhanced antioxidant protection, individuals with this genotype tend to have lower levels of LDL and total cholesterol [3]. Large-scale genetic studies have demonstrated that this lipid-lowering effect translates to a lower risk of developing coronary artery disease [4]. Additionally, this genotype is linked to lower circulating triglycerides and healthier overall lipid profiles [5].
Higher circulating haptoglobin levels; Lower LDL and total cholesterol; Reduced risk of coronary artery disease.
Sample genotype: AA (Homozygous)
Having the A/A genotype means carrying two copies of the minor allele, which is strongly associated with reduced haptoglobin expression [1]. Lower haptoglobin levels limit the body's ability to clear free hemoglobin, leading to increased oxidative stress in the bloodstream [2]. This oxidative environment impairs the normal clearance of lipids, resulting in higher circulating LDL and total cholesterol [3]. Over time, these elevated lipid levels and increased oxidative stress contribute to a moderately higher risk of coronary artery disease [4]. Routine lipid monitoring and cardiovascular wellness strategies are particularly beneficial for individuals with this genetic profile.
Significantly lower haptoglobin levels; Elevated LDL and total cholesterol; Increased risk of coronary artery disease.
Sample genotype: GA (Heterozygous)
Possessing the G/A genotype means carrying one copy of the A risk allele, which moderately influences haptoglobin and lipid levels. This intermediate status leads to slightly lower circulating haptoglobin levels compared to the G/G genotype [1]. With less haptoglobin available to neutralize free hemoglobin, there is a minor increase in oxidative stress on circulating lipids [2]. This slight elevation in cholesterol, along with minor increases in triglycerides, contributes to a slightly higher risk of coronary artery disease [4]. Maintaining a heart-healthy lifestyle can easily mitigate these minor genetic influences.
Slightly lower haptoglobin levels; Mildly elevated LDL cholesterol; Slightly increased risk of coronary artery disease.
Variants with shared genetic architecture
rs217181 · HPR Gene · Chr 16 · Cholesterol and Blood Proteins
rs7528419 · CELSR2 Gene · Chr 1 · Heart Disease Risk
rs1132274 · RRBP1 Gene · Chr 20 · Heart and Lipid Health
Complexity of a complex trait locus: HP, HPR, haemoglobin and cholesterol.
Biological, clinical and population relevance of 95 loci for blood lipids.
Genetics of 35 blood and urine biomarkers in the UK Biobank.
Content updated August 2026.
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