What you carry at this position in your DNA and what research says about it.
Cholesterol and Heart Risk: 10/10 evidence, 24 publications.
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Sample genotype (not yours): G/G
Lower Cholesterol and Reduced Heart Risk
Inheriting two copies of the protective G allele is associated with lower LDL cholesterol and a reduced risk of coronary artery disease. This genotype is also linked to a more favorable response to cholesterol-lowering statin medications.
What this genotype means: Lower LDL and total cholesterol; Reduced risk of coronary artery disease; More effective response to statin medications.
Sample genotype (not yours): G/T
Slightly Higher Cholesterol and Heart Risk
Carrying one copy of the T allele is linked to moderately elevated LDL cholesterol and a slightly increased risk of heart disease. It may also slightly reduce the effectiveness of statin medications.
What this genotype means: Moderately higher LDL cholesterol; Slightly increased risk of coronary artery disease; Potentially reduced response to statin therapy.
Sample genotype (not yours): T/T
Higher Cholesterol and Elevated Heart Risk
Inheriting two copies of the T allele is associated with higher LDL cholesterol and an elevated risk of coronary artery disease. This genotype is also linked to a less effective response to statin medications.
What this genotype means: Elevated LDL and total cholesterol; Increased risk of coronary artery disease; Reduced response to statin medications.
Gene function and biological role
Gene Function: The CELSR2 gene belongs to a highly studied cluster on chromosome 1 that also includes PSRC1 and SORT1 [1]. This genomic region plays a critical role in regulating how the liver processes and clears fats from the bloodstream [1]. Specifically, these genes coordinate the expression of sortilin, a receptor protein that binds to and helps degrade low-density lipoprotein (LDL) cholesterol [2]. When these genes are expressed at lower levels, the liver is less efficient at removing LDL from circulation, leading to higher blood cholesterol levels [2]. Consequently, variations in this gene cluster are among the strongest genetic predictors of lifetime cardiovascular health [1].
Variant Impact: Located in the 3' untranslated region of the CELSR2 gene, rs629301 is a regulatory genetic change [3]. This specific change acts as a genetic marker for a larger block of inherited DNA that directly alters the activity of the neighboring SORT1 gene in liver tissue [1]. The T allele is associated with reduced expression of sortilin in the liver, which impairs the clearance of LDL cholesterol particles from the blood [1]. As a result, this single nucleotide change significantly influences circulating lipid profiles and downstream cardiovascular risk [3].
Key Insight: A single genetic change on chromosome 1 regulates three different genes simultaneously, making it one of the most powerful genetic influences on blood cholesterol levels.
Location: CELSR2. Chromosome 1 · 1p13.3 · 109.3 Mb
Estimated prevalence by population
Global 6.9%; European 4.9%; African 12.6%; East Asian 0.4%; South Asian 6.0%; Americas 5.0%; Ashkenazi 2.9%; Finnish 4.9%; Middle Eastern 1.3%; Amish 10.8%.
Estimated GG genotype frequency.
Global 36.8%; European 34.5%; African 45.8%; East Asian 12.3%; South Asian 37.0%; Americas 34.7%; Ashkenazi 28.2%; Finnish 34.5%; Middle Eastern 19.9%; Amish 44.1%.
Estimated GT genotype frequency.
Global 56.4%; European 60.6%; African 41.7%; East Asian 87.3%; South Asian 56.9%; Americas 60.3%; Ashkenazi 68.9%; Finnish 60.6%; Middle Eastern 78.8%; Amish 45.1%.
Estimated TT genotype frequency.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
LDL Cholesterol. Evidence: 10/10. Source: PMID 20686565. Lower Levels.
Total Cholesterol. Evidence: 10/10. Source: PMID 20686565. Lower Levels.
HDL Cholesterol. Evidence: 10/10. Source: PMID 27790247. Higher Levels.
Triglycerides. Evidence: 10/10. Source: PMID 27790247. Lower Levels.
Heart Disease
Coronary Artery Disease. Evidence: 10/10. Source: PMID 27790247. Reduced Risk.
Pharmacogenomics
Lipid-Lowering Drug Response
Statin Response. Evidence: 5/10. Source: PMID 27648687. Typical Response.
Organ Systems
Kidney Function & Disease
Kidney Function. Evidence: 8/10. Source: PMID 39256582. Typical.
Showing effects for G/T genotype
LDL Cholesterol. Evidence: 10/10.
Total Cholesterol. Evidence: 10/10.
HDL Cholesterol. Evidence: 10/10. Source: PMID 27790247. Lower Levels.
Triglycerides. Evidence: 10/10. Source: PMID 27790247. Increased Levels.
Coronary Artery Disease. Evidence: 10/10. Source: PMID 27790247. Increased Risk.
Statin Response. Evidence: 5/10. Source: PMID 27648687. Poorer Response.
Kidney Function. Evidence: 8/10. Source: PMID 39256582. Slightly Higher eGFR.
Showing effects for T/T genotype
HDL Cholesterol. Evidence: 10/10. Source: PMID 27790247. Lowest Levels.
Triglycerides. Evidence: 10/10. Source: PMID 27790247. Highest Levels.
Coronary Artery Disease. Evidence: 10/10. Source: PMID 27790247. Highest Risk.
Kidney Function. Evidence: 8/10. Source: PMID 39256582. Higher eGFR.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Maintaining lower blood lipid levels is a key factor in long-term cardiovascular health. Research shows that the G/G genotype is associated with significantly lower LDL and total cholesterol levels compared to carriers of the T allele [1]. This protective effect is driven by increased expression of the SORT1 gene in the liver, which enhances the clearance of LDL particles from the bloodstream [2]. Clinical studies have demonstrated that individuals with this genotype have a lower risk of developing coronary artery disease and critical arterial stenosis [3]. Furthermore, evidence suggests that those with the G/G genotype experience a more robust reduction in LDL cholesterol when treated with standard statin therapies [4]. This genetic profile provides a natural advantage in lipid metabolism, though lifestyle factors like diet and exercise remain essential for overall heart health.
Lower LDL and total cholesterol; Reduced risk of coronary artery disease; More effective response to statin medications.
Sample genotype: GT (Heterozygous)
Elevated blood lipids can gradually contribute to plaque buildup in the arteries over time. Having one copy of the T allele is associated with a moderate increase in both LDL and total cholesterol levels [1]. This occurs because the T allele reduces the liver's expression of sortilin, a protein vital for clearing LDL cholesterol from circulation [2]. Consequently, carriers of this genotype have a slightly higher risk of coronary artery disease compared to those with the G/G genotype [3]. Some clinical evidence also indicates that individuals with the G/T genotype may show a slightly less pronounced reduction in cholesterol when taking statin medications [4].
Moderately higher LDL cholesterol; Slightly increased risk of coronary artery disease; Potentially reduced response to statin therapy.
Sample genotype: TT (Homozygous)
Higher circulating levels of LDL cholesterol are a well-established driver of cardiovascular disease. This genetic predisposition stems from a significant reduction in hepatic sortilin expression, which severely limits the liver's ability to clear LDL particles [2]. Over decades, this slight but persistent elevation in circulating lipids increases the risk of coronary artery disease and arterial stenosis [3]. Additionally, clinical studies suggest that individuals with the T/T genotype may experience a diminished response to standard statin therapies [4].
Elevated LDL and total cholesterol; Increased risk of coronary artery disease; Reduced response to statin medications.
Variants with shared genetic architecture
rs12740374 · CELSR2 Gene · Chr 1 · Heart Disease and Cholesterol
rs660240 · CELSR2 Gene · Chr 1 · LDL Cholesterol Levels
rs7528419 · CELSR2 Gene · Chr 1 · Heart Disease Risk
Biological, clinical and population relevance of 95 loci for blood lipids.
LDL-cholesterol concentrations: a genome-wide association study.
Content updated August 2026.
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