What you carry at this position in your DNA and what research says about it.
Cholesterol and Eye Health: 10/10 evidence, 21 publications.
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Sample genotype (not yours): G/G
Higher HDL Cholesterol but Increased Macular Degeneration Risk
Inheriting two copies of the G allele is associated with significantly higher levels of HDL cholesterol. However, this same genetic profile is linked to an elevated risk of developing age-related macular degeneration.
What this genotype means: Higher HDL cholesterol levels; Increased risk of age-related macular degeneration; Lower risk of metabolic syndrome.
Sample genotype (not yours): A/A
Typical HDL Cholesterol with Lower Macular Degeneration Risk
Two copies of the A allele are associated with typical HDL cholesterol levels and a lower risk of macular degeneration. However, this profile is linked to an increased risk of metabolic syndrome.
What this genotype means: Typical HDL cholesterol levels; Lower risk of age-related macular degeneration; Increased risk of metabolic syndrome.
Sample genotype (not yours): G/A
Typical Profile with Higher HDL and Moderate Risks
One copy of each allele results in higher HDL cholesterol levels. This profile also carries intermediate risks for both macular degeneration and metabolic syndrome.
What this genotype means: Higher HDL cholesterol levels; Slightly increased risk of age-related macular degeneration; Slightly increased risk of metabolic syndrome.
Gene function and biological role
Gene Function: The CETP gene encodes the cholesteryl ester transfer protein, which plays a central role in lipid metabolism [1]. This protein facilitates the exchange of cholesteryl esters from high-density lipoprotein (HDL) to very-low-density lipoprotein (VLDL) and low-density lipoprotein (LDL) [2]. Variations in this gene can significantly alter circulating levels of HDL, often referred to as good cholesterol [3]. Beyond cardiovascular health, CETP activity is increasingly linked to age-related macular degeneration, a leading cause of vision loss [4]. Understanding these genetic variations helps clarify the complex relationship between lipid transport and overall systemic health.
Variant Impact: The rs1864163 variant is an intronic change located within the CETP gene on chromosome 16. This genetic marker is strongly associated with variations in blood lipid levels, particularly HDL cholesterol [3]. The G allele of this variant is linked to higher concentrations of HDL, whereas the A allele correlates with lower levels [5]. Interestingly, this same G allele is also associated with an increased risk of developing age-related macular degeneration [4]. Conversely, the A allele is linked to a higher susceptibility to metabolic syndrome [6].
Key Insight: The G allele boosts beneficial HDL cholesterol but simultaneously increases the risk of age-related macular degeneration.
Location: CETP. Chromosome 16 · 16q13 · 57.0 Mb
Estimated prevalence by population
Global 55.5%; European 55.0%; African 50.9%; East Asian 75.7%; South Asian 61.6%; Americas 53.2%; Ashkenazi 62.1%; Finnish 64.8%; Middle Eastern 41.8%; Amish 63.1%.
Estimated GG genotype frequency.
Global 37.9%; European 38.3%; African 40.9%; East Asian 22.6%; South Asian 33.8%; Americas 39.5%; Ashkenazi 33.4%; Finnish 31.4%; Middle Eastern 45.7%; Amish 32.7%.
Estimated GA genotype frequency.
Global 6.7%; European 6.7%; African 8.2%; East Asian 1.7%; South Asian 4.6%; Americas 7.3%; Ashkenazi 4.5%; Finnish 3.8%; Middle Eastern 12.5%; Amish 4.2%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
HDL Cholesterol. Evidence: 10/10. Source: PMID 18193043. Higher.
Total Cholesterol. Evidence: 10/10. Source: PMID 28334899. Higher.
VLDL Cholesterol. Evidence: 8/10. Source: PMID 38448586. Typical.
Metabolic Syndrome & Insulin Resistance
Metabolic Syndrome. Evidence: 6/10. Source: PMID 38201907. Typical Risk.
Organ Systems
Vision & Eye Health
Macular Degeneration. Evidence: 8/10. Source: PMID 23455636. ~1.22x Risk.
Showing effects for A/A genotype
HDL Cholesterol. Evidence: 10/10. Source: PMID 18193043. Typical.
Total Cholesterol. Evidence: 10/10. Source: PMID 28334899. Typical.
VLDL Cholesterol. Evidence: 8/10. Source: PMID 38448586. Higher.
Metabolic Syndrome. Evidence: 6/10. Source: PMID 38201907. Increased Risk.
Macular Degeneration. Evidence: 8/10. Source: PMID 23455636. Typical Risk.
Showing effects for G/A genotype
Total Cholesterol. Evidence: 10/10. Source: PMID 28334899. Slightly Higher.
VLDL Cholesterol. Evidence: 8/10. Source: PMID 38448586. Slightly Higher.
Metabolic Syndrome. Evidence: 6/10. Source: PMID 38201907. Slightly Increased.
Macular Degeneration. Evidence: 8/10. Source: PMID 23455636. Slightly Increased.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Double copies of the G allele are associated with a beneficial increase in high-density lipoprotein (HDL) cholesterol, often called good cholesterol [1]. This lipid profile is generally considered protective against certain cardiovascular issues [3]. However, this genotype also carries a distinct trade-off, as the G allele is a known risk factor for age-related macular degeneration [4]. This progressive eye condition affects the macula and can lead to central vision loss over time [5]. On the other hand, this profile is associated with a lower risk of metabolic syndrome compared to carrying the A allele [6]. Balancing these cardiovascular benefits and ocular risks is key to understanding this genotype's overall impact.
Higher HDL cholesterol levels; Increased risk of age-related macular degeneration; Lower risk of metabolic syndrome.
Sample genotype: AA (Homozygous)
Two copies of the A allele mean lacking the G allele, which is associated with typical or slightly lower levels of HDL cholesterol [1]. While this does not provide the HDL-boosting benefit seen in G allele carriers, it offers a significant advantage for eye health [2]. This genotype is associated with a lower risk of developing age-related macular degeneration, a common cause of vision impairment in older adults [3]. However, the A/A genotype is also linked to an increased susceptibility to metabolic syndrome [4]. This condition involves a cluster of risk factors, including elevated blood pressure and blood sugar. Additionally, this profile correlates with higher levels of VLDL cholesterol and apolipoprotein B [5].
Typical HDL cholesterol levels; Lower risk of age-related macular degeneration; Increased risk of metabolic syndrome.
Sample genotype: GA (Heterozygous)
Inheriting one G allele and one A allele typically results in elevated levels of HDL cholesterol, similar to the G/G genotype [1]. This increase in good cholesterol is generally favorable for cardiovascular health [2]. However, the presence of the G allele also introduces a moderate increase in the risk of age-related macular degeneration [3]. Simultaneously, the single A allele is associated with a slight elevation in the risk of metabolic syndrome [4]. This combination of genetic factors creates a balanced profile where the cardiovascular benefits of higher HDL are accompanied by mild, competing health risks.
Higher HDL cholesterol levels; Slightly increased risk of age-related macular degeneration; Slightly increased risk of metabolic syndrome.
Variants with shared genetic architecture
rs12720922 · CETP Gene · Chr 16 · Cholesterol and Heart Health
rs1532624 · CETP Gene · Chr 16 · Lipid Levels and Statins
rs17231506 · CETP Gene · Chr 16 · Cardiovascular Health
Genome-wide characterization of circulating metabolic biomarkers.
Seven new loci associated with age-related macular degeneration.
A Genome-Wide Association Study of Metabolic Syndrome in the Taiwanese Population.
CETP gene polymorphisms and risk of coronary atherosclerosis in a Chinese population.
Content updated August 2026.
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