What you carry at this position in your DNA and what research says about it.
Cardiovascular Health: 10/10 evidence, 24 publications.
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Sample genotype (not yours): C/C
Typical Cholesterol and Heart Risk
Standard CETP activity levels maintain a typical balance of circulating lipids. This results in average levels of HDL, LDL, and triglycerides.
What this genotype means: Typical HDL and LDL cholesterol levels; Standard baseline risk of cardiovascular events.
Sample genotype (not yours): C/T
Cardioprotective Lipid Profile
Moderately reduced CETP expression leads to higher HDL and lower triglycerides. This shift supports overall cardiovascular resilience.
What this genotype means: Moderately elevated HDL cholesterol; Slightly lower triglycerides and LDL; Slightly lower risk of heart failure.
Sample genotype (not yours): T/T
Highly Cardioprotective but Higher Macular Risk
Significantly elevated HDL and lower triglycerides protect the heart but increase the risk of macular degeneration.
What this genotype means: Markedly elevated HDL cholesterol; Significantly lower triglycerides; Increased risk of age-related macular degeneration.
Gene function and biological role
Gene Function: The CETP gene encodes cholesteryl ester transfer protein, a key regulator of lipid metabolism in the bloodstream. This protein facilitates the exchange of cholesteryl esters from high-density lipoproteins (HDL) to very-low-density lipoproteins (VLDL) and low-density lipoproteins (LDL). Through this process, CETP naturally lowers circulating levels of HDL, often referred to as good cholesterol, while increasing LDL, or bad cholesterol. Consequently, genetic variations that reduce CETP activity or expression lead to elevated HDL and reduced LDL levels [1]. This makes CETP a major target for therapeutic drugs designed to raise HDL and protect against cardiovascular disease [2].
Variant Impact: The rs17231506 variant is located in the promoter region upstream of the CETP gene, where it directly influences gene transcription. The T allele of this variant is associated with reduced expression of the CETP gene [1]. This reduction in CETP levels leads to a decrease in the transfer of cholesteryl esters, resulting in higher circulating levels of HDL cholesterol [2]. Conversely, the C allele maintains typical CETP expression, resulting in standard lipid transfer rates [1].
Key Insight: The same genetic variant that protects your heart by raising good cholesterol also increases the risk of age-related macular degeneration, likely because extra-large cholesterol particles can accumulate in the retina.
Location: CETP. Chromosome 16 · 16q13 · 57.0 Mb
Estimated prevalence by population
Global 55.7%; European 45.9%; African 73.4%; East Asian 69.5%; South Asian 44.1%; Americas 53.4%; Ashkenazi 55.8%; Finnish 52.4%; Middle Eastern 58.3%; Amish 37.4%.
Estimated CC genotype frequency.
Global 37.0%; European 43.7%; African 24.6%; East Asian 27.8%; South Asian 44.6%; Americas 39.3%; Ashkenazi 37.8%; Finnish 40.0%; Middle Eastern 36.1%; Amish 47.5%.
Estimated CT genotype frequency.
Global 7.3%; European 10.4%; African 2.1%; East Asian 2.8%; South Asian 11.3%; Americas 7.2%; Ashkenazi 6.4%; Finnish 7.6%; Middle Eastern 5.6%; Amish 15.1%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
HDL Cholesterol. Evidence: 10/10. Source: PMID 25961943. Typical Levels.
Triglycerides. Evidence: 9/10. Source: PMID 29507422. Typical Levels.
Heart Disease
Heart Failure. Evidence: 6/10. Source: PMID 41022758. Typical Risk.
Organ Systems
Vision & Eye Health
Macular Degeneration. Evidence: 6/10. Source: PMID 26691988. Typical Risk.
Showing effects for C/T genotype
HDL Cholesterol. Evidence: 10/10. Source: PMID 25961943. Moderately Elevated.
Triglycerides. Evidence: 9/10. Source: PMID 29507422. Slightly Lower.
Heart Failure. Evidence: 6/10. Source: PMID 41022758. Slightly Lower Risk.
Macular Degeneration. Evidence: 6/10. Source: PMID 26691988. Slightly Higher Risk.
Showing effects for T/T genotype
HDL Cholesterol. Evidence: 10/10. Source: PMID 25961943. Significantly Elevated.
Triglycerides. Evidence: 9/10. Source: PMID 29507422. Lower Levels.
Heart Failure. Evidence: 6/10. Source: PMID 41022758. Lower Risk.
Macular Degeneration. Evidence: 6/10. Source: PMID 26691988. Increased Risk.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Standard CETP activity levels maintain a typical balance of circulating lipids. This results in average levels of HDL, LDL, and triglycerides, representing a baseline cardiovascular risk profile [1]. Standard lipid transport also means typical risk levels for age-related macular degeneration [2]. Because this genotype is the most common globally, it represents the standard reference point for lipid-related health outcomes. No specific dietary or lifestyle adjustments are typically suggested based on this genetic profile alone.
Typical HDL and LDL cholesterol levels; Standard baseline risk of cardiovascular events.
Sample genotype: CT (Heterozygous)
Reduced CETP expression leads to a favorable shift in the bloodstream's lipid profile. HDL cholesterol levels are moderately elevated, while triglycerides and LDL cholesterol are typically lower [1]. This shift is associated with a reduced risk of heart failure and general cardiovascular resilience [2]. However, the higher levels of large HDL particles may slightly increase the risk of developing age-related macular degeneration over time [3]. Regular cardiovascular monitoring and standard eye exams are sufficient to manage this mild trade-off.
Moderately elevated HDL cholesterol; Slightly lower triglycerides and LDL; Slightly lower risk of heart failure.
Sample genotype: TT (Homozygous)
Significantly lower CETP expression results in a highly cardioprotective lipid profile characterized by markedly elevated HDL cholesterol and lower triglycerides [1]. These changes contribute to a reduced risk of heart failure and overall cardiovascular events [2]. However, this pronounced shift also leads to an accumulation of extra-large HDL particles, which can deposit in the retina [3]. Consequently, there is a significantly increased risk of developing age-related macular degeneration [3]. This represents a classic genetic trade-off where heart protection comes with a compromise in long-term eye health.
Markedly elevated HDL cholesterol; Significantly lower triglycerides; Increased risk of age-related macular degeneration.
Variants with shared genetic architecture
rs12720922 · CETP Gene · Chr 16 · Cholesterol and Heart Health
rs1532624 · CETP Gene · Chr 16 · Lipid Levels and Statins
rs173539 · CETP Gene · Chr 16 · Cholesterol Levels
The impact of low-frequency and rare variants on lipid levels.
A large electronic-health-record-based genome-wide study of serum lipids.
Content updated August 2026.
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