What you carry at this position in your DNA and what research says about it.
HIV Progression Rate: 9/10 evidence, 34 publications.
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Sample genotype (not yours): G/G
Typical HIV Progression and Higher Clot Risk
This genotype is associated with a standard rate of HIV progression to AIDS and an increased risk of recurrent venous thromboembolism. It represents the most common genetic profile globally.
What this genotype means: Standard rate of HIV progression; Increased risk of recurrent venous thromboembolism; Higher baseline monocyte counts.
Sample genotype (not yours): A/A
Slower HIV Progression and Typical Clot Risk
Carrying two copies of the protective A allele is linked to a significantly slower progression from HIV to AIDS. It also correlates with a typical baseline risk for recurrent blood clots.
What this genotype means: Slower progression from HIV to AIDS; Typical baseline risk of blood clots; Lower circulating monocyte counts.
Sample genotype (not yours): G/A
Carrying one copy of the protective A allele is linked to a significantly slower progression from HIV to AIDS. It also correlates with a typical baseline risk for recurrent blood clots.
What this genotype means: Slower progression from HIV to AIDS; Typical baseline risk of blood clots; Slightly lower circulating monocyte counts.
Gene function and biological role
Gene Function: The CCR2 gene encodes a chemokine receptor protein that is primarily expressed on the surface of monocytes and macrophages [1]. This receptor binds to chemical signals to guide these immune cells to sites of active inflammation [1]. Because certain viruses, including HIV-1, can utilize chemokine receptors to facilitate entry or influence cellular trafficking, CCR2 is a key player in viral pathogenesis [2]. Additionally, CCR2-mediated signaling is involved in cardiovascular processes, including the development of vascular inflammation and blood clots [3].
Variant Impact: The rs1799864 variant is a missense mutation in the CCR2 gene that changes the amino acid at position 64 from valine to isoleucine, commonly referred to as the Val64Ile or 64I variant. This specific structural change alters the stability and expression of the receptor on the cell surface, which can restrict the entry or progression of certain pathogens [2]. The altered receptor dynamics also influence the circulating levels of related signaling proteins and the overall count of inflammatory monocytes in the blood [4]. Consequently, this single nucleotide change has been widely studied for its protective effects against rapid viral disease progression [5].
Key Insight: The protective A allele of this variant can delay the progression of HIV to AIDS by several years, but this protective effect is most pronounced during the first four years of infection.
Location: CCR2. Chromosome 3 · 3p21.31 · 46.4 Mb
Estimated prevalence by population
Global 77.3%; European 82.8%; African 71.1%; East Asian 62.1%; South Asian 77.4%; Americas 68.7%; Ashkenazi 76.6%; Finnish 87.8%; Middle Eastern 69.8%; Amish 77.9%.
Estimated GG genotype frequency.
Global 21.0%; European 16.4%; African 26.4%; East Asian 33.4%; South Asian 21.2%; Americas 28.4%; Ashkenazi 21.9%; Finnish 11.8%; Middle Eastern 27.5%; Amish 20.7%.
Estimated GA genotype frequency.
Global 1.6%; European 0.8%; African 2.5%; East Asian 4.5%; South Asian 1.5%; Americas 2.9%; Ashkenazi 1.6%; Finnish 0.4%; Middle Eastern 2.7%; Amish 1.4%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Immunity & Inflammation
Infection Susceptibility & Resistance
HIV Progression Rate. Evidence: 4/10. Source: PMID 9252328. Typical Progression.
Inflammatory & Circulating Protein Markers
CCL2 Chemokine Levels. Evidence: 6/10. Source: PMID 35078996. Lower Levels.
Cardiovascular & Metabolic
Coagulation & Clotting
Blood Clot Risk. Evidence: 3/10. Source: PMID 20031567. Increased Risk.
Blood Cell & Iron Traits
Monocyte Count. Evidence: 9/10. Source: PMID 27863252. Higher Count.
Showing effects for A/A genotype
HIV Progression Rate. Evidence: 4/10. Source: PMID 9252328. Slower Progression.
CCL2 Chemokine Levels. Evidence: 6/10. Source: PMID 35078996. Higher Levels.
Blood Clot Risk. Evidence: 3/10. Source: PMID 20031567. Typical Risk.
Monocyte Count. Evidence: 9/10. Source: PMID 27863252. Lower Count.
Showing effects for G/A genotype
CCL2 Chemokine Levels. Evidence: 6/10. Source: PMID 35078996. Typical Levels.
Monocyte Count. Evidence: 9/10. Source: PMID 27863252. Typical Count.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Carrying two copies of the G allele means expressing the typical valine residue at position 64 of the CCR2 receptor. In the context of HIV infection, individuals with this baseline genotype do not benefit from the protective delay in disease progression seen in carriers of the A allele [1]. Research indicates that without the protective variant, the transition from HIV infection to clinical AIDS occurs at a standard, unmodified rate [2]. Furthermore, this genotype has been linked to a higher risk of developing recurrent venous thromboembolism, which are dangerous blood clots in the veins [3]. This elevated clotting risk may be tied to the typical recruitment of inflammatory monocytes and standard chemokine signaling pathways [4]. Individuals with this profile also tend to have higher baseline monocyte counts compared to those carrying the variant allele. This combination of factors represents the most common genetic baseline found in populations worldwide.
Standard rate of HIV progression; Increased risk of recurrent venous thromboembolism; Higher baseline monocyte counts.
Sample genotype: AA (Homozygous)
This homozygous genotype means all expressed CCR2 receptors carry the isoleucine variant at position 64. Individuals with this genotype benefit from a significantly delayed progression of HIV to clinical AIDS, particularly during the early years of infection [1]. The presence of two protective alleles alters chemokine receptor dynamics, which is believed to interfere with viral pathogenesis [2]. Beyond viral defense, this genotype is associated with a typical, non-elevated risk of recurrent venous thromboembolism, avoiding the higher risk seen in G/G individuals [3]. It is also characterized by lower circulating monocyte counts and higher levels of the CCL2 chemokine in the bloodstream [4]. Having two copies of this variant is less common but represents the maximum genetic protection against rapid disease progression. This profile highlights how a single amino acid change can profoundly alter immune receptor behavior.
Slower progression from HIV to AIDS; Typical baseline risk of blood clots; Lower circulating monocyte counts.
Sample genotype: GA (Heterozygous)
This heterozygous genotype introduces one copy of the isoleucine variant into the CCR2 receptor, altering its function. Clinical studies have demonstrated that individuals with this profile experience a slower rate of HIV disease progression, showing up to a 58 percent lower risk of developing AIDS in the first few years following infection [1]. This protective effect is thought to stem from altered receptor dimerization or surface expression, which indirectly limits viral efficiency [2]. In addition to viral protection, carrying the A allele is associated with a typical, non-elevated risk of recurrent venous thromboembolism compared to the G/G genotype [3]. It also influences blood measurements, leading to slightly lower circulating monocyte counts [4]. The presence of this single variant copy provides a notable survival advantage in historical cohorts exposed to the virus. It represents a balanced genetic profile that is relatively common across many global ancestries.
Slower progression from HIV to AIDS; Typical baseline risk of blood clots; Slightly lower circulating monocyte counts.
Variants with shared genetic architecture
rs10849448 · LTBR Gene · Chr 12 · Respiratory Infection Risk
rs10886430 · GRK5 Gene · Chr 10 · Blood Clot Risk
rs12445050 · PLCG2 Gene · Chr 16 · Blood Clot Risk
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
Content updated August 2026.
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