What you carry at this position in your DNA and what research says about it.
Coronary Artery Disease Risk: 10/10 evidence, 17 publications.
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Sample genotype (not yours): T/T
Lower Heart Disease Risk
Two copies of the protective T allele are linked to lower LDL cholesterol and a reduced risk of coronary artery disease. This genotype is also associated with greater parental longevity, though it carries a slightly higher risk of abdominal aortic aneurysms.
What this genotype means: Lower circulating LDL and VLDL cholesterol levels; Reduced risk of coronary artery disease; Slightly increased risk of abdominal aortic aneurysm.
Sample genotype (not yours): G/G
Higher Heart Disease Risk
Two copies of the major G allele are associated with higher LDL cholesterol levels and an increased risk of coronary artery disease. This genetic profile is also linked to shorter parental lifespans, though it offers protection against abdominal aortic aneurysms.
What this genotype means: Elevated circulating LDL and VLDL cholesterol levels; Increased risk of coronary artery disease; Lower risk of abdominal aortic aneurysm.
Sample genotype (not yours): T/G
Intermediate Heart Disease Risk
Carrying one copy of each allele results in intermediate levels of LDL cholesterol and a typical risk of coronary artery disease. This genotype represents a balanced genetic influence on cardiovascular health.
What this genotype means: Typical circulating LDL and VLDL cholesterol levels; Average risk of coronary artery disease; Moderate balance of cardiovascular risk factors.
Gene function and biological role
Gene Function: The genomic region containing CELSR2, PSRC1, and SORT1 is one of the most heavily studied loci in human cardiovascular genetics. SORT1 encodes sortilin-1, a receptor protein that plays a central role in the liver's uptake and clearance of low-density lipoprotein cholesterol from the bloodstream [1]. CELSR2 is involved in cell-to-cell signaling and contact-mediated adhesion, while PSRC1 plays a role in microtubule dynamics during cell division. Together, these neighboring genes form a tightly regulated functional unit that directly influences systemic lipid metabolism and arterial health [2]. Alterations in the expression of these genes significantly impact circulating cholesterol levels and subsequent cardiovascular risk.
Variant Impact: This intergenic variant acts as a powerful regulatory switch on chromosome 1p13.3 that controls the liver expression of CELSR2, PSRC1, and SORT1. The major G allele is associated with significantly reduced expression of these genes in hepatic tissue, which impairs the liver's capacity to clear cholesterol-rich particles [1]. Consequently, individuals carrying the G allele tend to have higher circulating levels of LDL and VLDL cholesterol, which promotes plaque buildup in the coronary arteries. Conversely, the minor T allele enhances gene expression, facilitating more efficient lipid clearance and offering protection against heart disease [3]. However, this increased expression also subtly alters vascular remodeling, slightly raising the risk of abdominal aortic aneurysms.
Key Insight: This variant is one of the strongest common genetic regulators of LDL cholesterol in the human genome, demonstrating how non-coding DNA can profoundly dictate liver biology and heart health.
Location: PSRC1. Chromosome 1 · 1p13.3 · 109.3 Mb
Estimated prevalence by population
Global 17.8%; European 4.8%; African 52.0%; East Asian 0.4%; South Asian 6.3%; Americas 6.2%; Ashkenazi 2.9%; Finnish 5.0%; Middle Eastern 2.0%; Amish 11.7%.
Estimated TT genotype frequency.
Global 35.5%; European 34.2%; African 40.2%; East Asian 12.2%; South Asian 37.5%; Americas 37.5%; Ashkenazi 28.4%; Finnish 34.7%; Middle Eastern 24.5%; Amish 45.0%.
Estimated TG genotype frequency.
Global 46.7%; European 61.0%; African 7.8%; East Asian 87.4%; South Asian 56.2%; Americas 56.3%; Ashkenazi 68.6%; Finnish 60.3%; Middle Eastern 73.5%; Amish 43.3%.
Estimated GG genotype frequency.
Showing effects for T/T genotype
Cardiovascular & Metabolic
Heart Disease
Coronary Artery Disease. Evidence: 10/10. Source: PMID 24262325. Lower Risk.
Lipids & Cholesterol
LDL Cholesterol. Evidence: 10/10. Source: PMID 34887591. Lower Levels.
VLDL Cholesterol. Evidence: 8/10. Source: PMID 35213538. Lower Levels.
Vascular Health & Aneurysm
Aortic Aneurysm. Evidence: 6/10. Source: PMID 27899403. ~1.14x Increased Risk.
Lifestyle, Fitness & Aging
Aging & Longevity
Parental Longevity. Evidence: 7/10. Source: PMID 29227965. Increased Lifespan.
Nutrition & Metabolism
Macronutrient Metabolism
Linoleic Acid. Evidence: 8/10. Source: PMID 35692035. Lower Levels.
Showing effects for G/G genotype
Coronary Artery Disease. Evidence: 10/10. Source: PMID 24262325. Increased Risk.
LDL Cholesterol. Evidence: 10/10. Source: PMID 34887591. Increased Levels.
VLDL Cholesterol. Evidence: 8/10. Source: PMID 35213538. Increased Levels.
Aortic Aneurysm. Evidence: 6/10. Source: PMID 27899403. Lower Risk.
Parental Longevity. Evidence: 7/10. Source: PMID 29227965. Decreased Lifespan.
Linoleic Acid. Evidence: 8/10. Source: PMID 35692035. Increased Levels.
Showing effects for T/G genotype
Coronary Artery Disease. Evidence: 10/10. Source: PMID 24262325. Intermediate Risk.
LDL Cholesterol. Evidence: 10/10. Source: PMID 34887591. Intermediate Levels.
VLDL Cholesterol. Evidence: 8/10. Source: PMID 35213538. Intermediate Levels.
Aortic Aneurysm. Evidence: 6/10. Source: PMID 27899403. Slightly Raised Risk.
Parental Longevity. Evidence: 7/10. Source: PMID 29227965. Intermediate Lifespan.
Linoleic Acid. Evidence: 8/10. Source: PMID 35692035. Intermediate Levels.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
Carrying two copies of the T allele promotes higher expression of the SORT1 gene in the liver, which significantly enhances the clearance of low-density lipoprotein particles from the blood [1]. This efficient lipid metabolism results in lower circulating levels of LDL and VLDL cholesterol, reducing the long-term risk of plaque accumulation in the coronary arteries [2]. Large-scale genomic studies consistently link this favorable lipid profile to a lower incidence of coronary artery disease and myocardial infarction [3]. Reflecting these cardiovascular benefits, individuals with this genotype also show a statistically significant association with increased parental longevity [4]. However, this genetic profile is also associated with a modest increase in the risk of developing an abdominal aortic aneurysm, likely due to subtle differences in vascular wall remodeling [5]. Despite this minor trade-off, the overall cardiovascular profile remains highly favorable.
Lower circulating LDL and VLDL cholesterol levels; Reduced risk of coronary artery disease; Slightly increased risk of abdominal aortic aneurysm.
Sample genotype: GG (Homozygous)
Carrying two copies of the G allele leads to reduced expression of the SORT1 gene in liver tissue, which limits the liver's ability to clear low-density lipoprotein particles from circulation [1]. This reduction in clearance efficiency causes higher levels of LDL and VLDL cholesterol to remain in the bloodstream [2]. Over time, these elevated lipids accelerate the development of atherosclerosis, significantly increasing the risk of coronary artery disease and heart attacks [3]. Due to these pronounced cardiovascular risks, this genotype is consistently associated with reduced parental longevity in large-scale genetic studies [4]. On the positive side, this genetic profile appears to protect against the development of abdominal aortic aneurysms, likely due to differences in vascular matrix maintenance [5]. Nevertheless, managing blood lipid levels through diet, exercise, and medical guidance remains highly important for individuals with this genotype.
Elevated circulating LDL and VLDL cholesterol levels; Increased risk of coronary artery disease; Lower risk of abdominal aortic aneurysm.
Sample genotype: TG (Heterozygous)
Having one protective T allele and one risk-associated G allele results in intermediate liver expression of the SORT1, CELSR2, and PSRC1 genes [1]. This moderate expression level leads to average rates of hepatic LDL clearance, translating to typical circulating levels of LDL and VLDL cholesterol [2]. Consequently, the risk of developing coronary artery disease is intermediate, sitting between the high-risk G/G genotype and the low-risk T/T genotype [3]. This balanced profile is also reflected in average parental longevity patterns observed in large cohorts [4]. Additionally, the risk of abdominal aortic aneurysm is only slightly elevated compared to the baseline population [5]. Overall, this genotype does not strongly push cardiovascular risk in either direction, making lifestyle factors the primary driver of heart health.
Typical circulating LDL and VLDL cholesterol levels; Average risk of coronary artery disease; Moderate balance of cardiovascular risk factors.
Variants with shared genetic architecture
rs599839 · PSRC1 Gene · Chr 1 · Heart Disease Risk
rs1277930 · PSRC1 Gene · Chr 1 · Heart Disease Risk
rs583104 · PSRC1 Gene · Chr 1 · Heart Disease Risk
LDL-cholesterol concentrations: a genome-wide association study.
Human longevity: 25 genetic loci associated in 389,166 UK biobank participants.
Content updated August 2026.
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