What you carry at this position in your DNA and what research says about it.
Heart Disease Risk: 10/10 evidence, 35 publications.
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Sample genotype (not yours): A/A
Higher Cholesterol and Heart Disease Risk
Two copies of the A allele are associated with elevated levels of low-density lipoprotein cholesterol. This genetic profile is linked to a moderately higher risk of developing coronary artery disease and experiencing a heart attack.
What this genotype means: Elevated low-density lipoprotein cholesterol; Increased risk of coronary artery disease; Higher likelihood of myocardial infarction.
Sample genotype (not yours): A/G
Moderately Higher Cholesterol and Heart Risk
Carrying one copy of the A allele is linked to slightly elevated low-density lipoprotein cholesterol levels. This intermediate profile carries a modest increase in the risk of arterial plaque buildup and coronary artery disease.
What this genotype means: Moderately elevated low-density lipoprotein cholesterol; Slightly increased risk of coronary artery disease; Slightly higher risk of peripheral arterial disease.
Sample genotype (not yours): G/G
Lower Cholesterol and Reduced Heart Risk
Two copies of the G allele are associated with lower levels of low-density lipoprotein cholesterol. This genetic profile provides natural protection against coronary artery disease and heart attacks. While cardiovascular risk is lower, circulating triglycerides and fatty acids may be slightly higher.
What this genotype means: Lower circulating low-density lipoprotein cholesterol; Reduced risk of coronary artery disease; Slightly higher circulating triglycerides.
Gene function and biological role
Gene Function: The CELSR2 gene encodes a member of the cadherin superfamily, which is involved in cell-to-cell adhesion and receptor-ligand interactions [1]. It is part of a highly studied gene cluster on chromosome 1 that includes PSRC1 and SORT1 [2]. This genomic region plays a critical role in regulating blood lipid levels, particularly low-density lipoprotein cholesterol [2]. Cellular studies indicate that CELSR2 expression levels are tightly linked to the clearance of cholesterol-rich particles from the bloodstream by the liver [3]. Variations in this gene are among the most strongly replicated genetic signals for cardiovascular health in human populations [4].
Variant Impact: This single nucleotide variant is located in the 3 prime untranslated region of the CELSR2 gene, where it influences gene expression levels [5]. It acts as a key regulatory marker for the CELSR2-PSRC1-SORT1 gene cluster, altering how efficiently the liver processes circulating lipids [6]. The presence of the A allele is associated with higher levels of total and low-density lipoprotein cholesterol [7]. Conversely, the G allele correlates with lower cholesterol levels but slightly higher triglycerides [8]. Because of its direct impact on lipid clearance, this variant is a major genetic determinant of arterial plaque buildup and heart health [9].
Key Insight: This variant is part of one of the most powerful genetic clusters influencing cholesterol levels, directly affecting how the liver clears low-density lipoprotein from the bloodstream.
Location: CELSR2. Chromosome 1 · 1p13.3 · 109.3 Mb
Estimated prevalence by population
Global 59.9%; European 60.6%; African 53.6%; East Asian 87.8%; South Asian 57.1%; Americas 62.1%; Ashkenazi 69.0%; Finnish 60.7%; Middle Eastern 80.0%; Amish 45.4%.
Estimated AA genotype frequency.
Global 34.8%; European 34.5%; African 39.2%; East Asian 11.8%; South Asian 36.9%; Americas 33.4%; Ashkenazi 28.2%; Finnish 34.5%; Middle Eastern 18.9%; Amish 44.0%.
Estimated AG genotype frequency.
Global 5.3%; European 4.9%; African 7.2%; East Asian 0.4%; South Asian 6.0%; Americas 4.5%; Ashkenazi 2.9%; Finnish 4.9%; Middle Eastern 1.1%; Amish 10.7%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Heart Disease
Coronary Artery Disease. Evidence: 10/10. Source: PMID 26343387. ~1.12x Risk.
Heart Attack. Evidence: 10/10. Source: PMID 26343387. ~1.11x Risk.
Lipids & Cholesterol
LDL Cholesterol. Evidence: 10/10. Source: PMID 29507422. Elevated Levels.
Triglycerides. Evidence: 8/10. Source: PMID 34887591. Typical Levels.
Vascular Health & Aneurysm
Peripheral Artery Disease. Evidence: 8/10. Source: PMID 31285632. ~1.06x Risk.
Nutrition & Metabolism
Macronutrient Metabolism
Omega-6 Fatty Acids. Evidence: 9/10. Source: PMID 40545721. Typical Levels.
Showing effects for A/G genotype
Coronary Artery Disease. Evidence: 10/10. Source: PMID 26343387. Increased Risk.
Heart Attack. Evidence: 10/10. Source: PMID 26343387. Increased Risk.
Peripheral Artery Disease. Evidence: 8/10. Source: PMID 31285632. Increased Risk.
Showing effects for G/G genotype
Coronary Artery Disease. Evidence: 10/10. Source: PMID 26343387. Typical Risk.
Heart Attack. Evidence: 10/10. Source: PMID 26343387. Typical Risk.
LDL Cholesterol. Evidence: 10/10. Source: PMID 29507422. Typical Levels.
Triglycerides. Evidence: 8/10. Source: PMID 34887591. Slightly Elevated.
Peripheral Artery Disease. Evidence: 8/10. Source: PMID 31285632. Typical Risk.
Omega-6 Fatty Acids. Evidence: 9/10. Source: PMID 40545721. Slightly Elevated.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Inheriting two copies of the A allele is associated with a well-documented increase in circulating total and low-density lipoprotein cholesterol [1]. Large-scale genomic studies show that this genotype correlates with a twelve percent higher risk of coronary artery disease [2]. The elevated cholesterol levels associated with this profile can accelerate the accumulation of arterial plaque over time [3]. This progressive buildup increases the likelihood of myocardial infarction, commonly known as a heart attack [4]. Additionally, this genetic pattern is linked to a higher risk of peripheral arterial disease, which affects blood flow in the limbs [5]. Interestingly, while cholesterol levels are higher, individuals with this genotype tend to have slightly lower circulating triglycerides [6].
Elevated low-density lipoprotein cholesterol; Increased risk of coronary artery disease; Higher likelihood of myocardial infarction.
Sample genotype: AG (Heterozygous)
Carrying a single copy of the A allele results in an intermediate cardiovascular risk profile compared to the other genotypes [1]. Blood lipid measurements typically reveal moderately elevated levels of total and low-density lipoprotein cholesterol [2]. This elevation is associated with a small but measurable increase in the risk of coronary artery disease [3]. Over time, the moderate increase in circulating lipids can contribute to arterial narrowing and plaque deposition [4]. Consequently, the risk of experiencing a myocardial infarction is slightly higher than in those with the protective genotype [5]. There is also a minor increase in the risk of developing peripheral arterial disease [6]. On the other hand, triglyceride levels and circulating fatty acids tend to be slightly lower or typical [7].
Moderately elevated low-density lipoprotein cholesterol; Slightly increased risk of coronary artery disease; Slightly higher risk of peripheral arterial disease.
Sample genotype: GG (Homozygous)
Possessing two copies of the G allele is associated with a highly favorable cardiovascular profile due to lower circulating cholesterol [1]. Clinical data indicate that this genotype is linked to significantly lower levels of total and low-density lipoprotein cholesterol [2]. This reduction in atherogenic particles translates to a lower risk of developing coronary artery disease [3]. The likelihood of experiencing a myocardial infarction is also reduced compared to carriers of the A allele [4]. Furthermore, this protective effect extends to a lower risk of peripheral arterial disease [5]. However, this genetic profile is associated with slightly higher levels of circulating triglycerides [6]. It also correlates with increased levels of polyunsaturated fatty acids, including omega-6 and linoleic acid [7]. Despite the slight rise in these lipid markers, the overall impact remains highly protective for heart health [8].
Lower circulating low-density lipoprotein cholesterol; Reduced risk of coronary artery disease; Slightly higher circulating triglycerides.
Variants with shared genetic architecture
rs12740374 · CELSR2 Gene · Chr 1 · Heart Disease and Cholesterol
rs629301 · CELSR2 Gene · Chr 1 · Cholesterol and Heart Risk
rs660240 · CELSR2 Gene · Chr 1 · LDL Cholesterol Levels
Mapping the proteo-genomic convergence of human diseases.
Genetic analyses of diverse populations improves discovery for complex traits.
A large electronic-health-record-based genome-wide study of serum lipids.
The power of genetic diversity in genome-wide association studies of lipids.
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
Genome-wide association study of peripheral artery disease in the Million Veteran Program.
Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.
Content updated August 2026.
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