What you carry at this position in your DNA and what research says about it.
LDL Cholesterol Levels: 10/10 evidence, 24 publications.
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Sample genotype (not yours): T/T
Significantly Lower LDL Cholesterol and Heart Risk
Carrying two copies of the protective T allele is associated with significantly lower levels of LDL cholesterol. This genetic profile is linked to a reduced risk of heart failure and myocardial infarction.
What this genotype means: Significantly lower LDL cholesterol; Reduced risk of heart failure; Reduced risk of myocardial infarction.
Sample genotype (not yours): C/C
Typical LDL Cholesterol and Heart Risk
Carrying two copies of the common C allele is associated with typical levels of LDL cholesterol. This genotype represents the baseline risk for cardiovascular disease and heart failure.
What this genotype means: Typical LDL cholesterol levels; Baseline risk of heart failure; Baseline risk of myocardial infarction.
Sample genotype (not yours): T/C
Lower LDL Cholesterol and Heart Risk
Carrying one copy of the protective T allele is associated with moderately lower LDL cholesterol levels. This genotype provides a protective effect against cardiovascular disease and heart failure.
What this genotype means: Moderately lower LDL cholesterol; Lower risk of heart failure; Lower risk of myocardial infarction.
Gene function and biological role
Gene Function: The CELSR2 gene encodes a member of the cadherin superfamily, which plays a role in cell-cell adhesion and receptor-mediated signaling. It is located in the 1p13.3 chromosomal region, a locus highly famous for its profound influence on lipid metabolism [1]. Together with neighboring genes PSRC1 and SORT1, CELSR2 regulates the hepatic expression of sortilin, a protein that controls the secretion of very-low-density lipoproteins and the uptake of low-density lipoproteins by the liver. Genetic variations in this region are among the most robustly replicated determinants of circulating LDL cholesterol levels in genome-wide association studies.
Variant Impact: Located in the 3 prime untranslated region of the CELSR2 gene, rs660240 is a single nucleotide polymorphism that influences lipid metabolism. This genetic change alters the regulatory region of the gene, which in turn influences the expression levels of the neighboring SORT1 gene in liver tissue [2]. Higher expression of SORT1 leads to more efficient clearance of LDL cholesterol from the bloodstream, thereby lowering circulating lipid levels. The protective T allele of this variant is strongly associated with reduced LDL cholesterol, lower total cholesterol, and a decreased risk of coronary artery disease and myocardial infarction.
Key Insight: The protective T allele of rs660240 actually lowers LDL cholesterol by increasing the expression of a neighboring gene, SORT1, which helps the liver clear cholesterol from the blood.
Location: CELSR2. Chromosome 1 · 1p13.3 · 109.3 Mb
Estimated prevalence by population
Global 6.5%; European 4.6%; African 12.1%; East Asian 0.4%; South Asian 6.0%; Americas 4.4%; Ashkenazi 2.9%; Finnish 4.9%; Middle Eastern 1.0%; Amish 10.8%.
Estimated TT genotype frequency.
Global 36.1%; European 33.7%; African 45.4%; East Asian 11.9%; South Asian 36.9%; Americas 33.2%; Ashkenazi 28.1%; Finnish 34.4%; Middle Eastern 18.3%; Amish 44.1%.
Estimated TC genotype frequency.
Global 57.4%; European 61.7%; African 42.5%; East Asian 87.7%; South Asian 57.1%; Americas 62.4%; Ashkenazi 69.0%; Finnish 60.7%; Middle Eastern 80.6%; Amish 45.2%.
Estimated CC genotype frequency.
Showing effects for T/T genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
LDL Cholesterol. Evidence: 10/10. Source: PMID 20864672. ~0.34 mmol/L lower.
Total Cholesterol. Evidence: 10/10. Source: PMID 29507422. Lower.
Triglycerides. Evidence: 9/10. Source: PMID 35213538. Lower.
Heart Disease
Heart Failure. Evidence: 6/10. Source: PMID 31919418. Lower Risk.
Heart Attack. Evidence: 7/10. Source: PMID 39789286. Lower Risk.
Organ Systems
Bone, Joint & Connective Tissue Health
Heel Bone Density. Evidence: 6/10. Source: PMID 30598549. Higher Density.
Showing effects for C/C genotype
LDL Cholesterol. Evidence: 10/10. Source: PMID 20864672. Typical.
Total Cholesterol. Evidence: 10/10. Source: PMID 29507422. Typical.
Triglycerides. Evidence: 9/10. Source: PMID 35213538. Typical.
Heart Failure. Evidence: 6/10. Source: PMID 31919418. Typical Risk.
Heart Attack. Evidence: 7/10. Source: PMID 39789286. Typical Risk.
Heel Bone Density. Evidence: 6/10. Source: PMID 30598549. Typical Density.
Showing effects for T/C genotype
LDL Cholesterol. Evidence: 10/10. Source: PMID 20864672. ~0.17 mmol/L lower.
Total Cholesterol. Evidence: 10/10. Source: PMID 29507422. Moderately Lower.
Triglycerides. Evidence: 9/10. Source: PMID 35213538. Moderately Lower.
Heart Failure. Evidence: 6/10. Source: PMID 31919418. Moderately Lower Risk.
Heart Attack. Evidence: 7/10. Source: PMID 39789286. Moderately Lower Risk.
Heel Bone Density. Evidence: 6/10. Source: PMID 30598549. Slightly Higher.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
Two copies of the protective T allele at this locus are highly beneficial for cardiovascular health. This genetic profile is associated with a substantial reduction in circulating LDL cholesterol, typically lowering it by approximately 0.34 mmol/L compared to the common C/C baseline [1]. This lipid-lowering effect translates directly into a significantly reduced risk of coronary artery disease, myocardial infarction, and heart failure [2]. Additionally, this genotype is linked to lower total cholesterol and triglycerides, as well as higher heel bone mineral density [3]. The biological mechanism involves increased expression of the SORT1 gene in the liver, which enhances the clearance of LDL particles from the blood. Individuals with this profile often have a naturally more favorable lipid profile and a lower lifetime risk of cardiovascular events. Regular cardiovascular screenings typically show excellent lipid markers for people with this genetic makeup. Maintaining a standard healthy diet further amplifies these natural genetic advantages.
Significantly lower LDL cholesterol; Reduced risk of heart failure; Reduced risk of myocardial infarction; Higher heel bone mineral density.
Sample genotype: CC (Homozygous)
Two copies of the common C allele represent the most frequent genetic profile globally, serving as the baseline for lipid levels and cardiovascular risk. This genotype is associated with typical circulating levels of LDL cholesterol, lacking the protective, lipid-lowering effects of the T allele [1]. Consequently, individuals with this profile have a standard, baseline risk for coronary artery disease, myocardial infarction, and heart failure [2]. It is also associated with typical levels of total cholesterol, triglycerides, and heel bone mineral density [3]. Because this is the most common genotype, cardiovascular risk is highly influenced by lifestyle factors such as diet, exercise, and smoking. Maintaining a heart-healthy lifestyle is particularly important for individuals with this baseline genetic profile to manage their cholesterol levels effectively. Routine cholesterol screenings are highly recommended to establish a personal baseline and track cardiovascular health over time. Standard medical guidelines and dietary interventions are highly effective at managing lipid levels for this common genotype.
Typical LDL cholesterol levels; Baseline risk of heart failure; Baseline risk of myocardial infarction; Typical heel bone mineral density.
Sample genotype: TC (Heterozygous)
One copy of the protective T allele provides a moderate, beneficial reduction in circulating LDL cholesterol. This genotype is associated with an intermediate lipid-lowering effect, reducing LDL cholesterol by about 0.17 mmol/L compared to the common C/C genotype [1]. This reduction in circulating lipids is linked to a lower risk of developing coronary artery disease, myocardial infarction, and heart failure [2]. The single T allele also correlates with lower total cholesterol and triglycerides, alongside a slight increase in heel bone mineral density [3]. This protective effect is driven by altered regulatory activity in the CELSR2-SORT1 locus, which improves the liver's ability to clear LDL particles from circulation. While the protective effect is not as pronounced as in those with two T alleles, it still offers a meaningful advantage for long-term cardiovascular health. Standard lifestyle choices like regular exercise and a balanced diet work synergistically with this protective allele. Monitoring lipid levels over time helps confirm that cholesterol remains within a healthy target range.
Moderately lower LDL cholesterol; Lower risk of heart failure; Lower risk of myocardial infarction; Slightly higher heel bone mineral density.
Variants with shared genetic architecture
rs12740374 · CELSR2 Gene · Chr 1 · Heart Disease and Cholesterol
rs629301 · CELSR2 Gene · Chr 1 · Cholesterol and Heart Risk
rs7528419 · CELSR2 Gene · Chr 1 · Heart Disease Risk
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
LDL-cholesterol concentrations: a genome-wide association study.
An atlas of genetic influences on osteoporosis in humans and mice.
Content updated August 2026.
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