What you carry at this position in your DNA and what research says about it.
Heart Disease Risk: 10/10 evidence, 66 publications.
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Sample genotype (not yours): G/G
Lower Cholesterol and Heart Disease Risk
Presence of two copies of the protective G allele is linked to highly efficient clearance of LDL cholesterol from the blood. This genotype significantly reduces the risk of developing coronary artery disease and other cardiovascular complications.
What this genotype means: Lower LDL cholesterol levels; Reduced risk of coronary artery disease; Lower risk of abdominal aortic aneurysm.
Sample genotype (not yours): A/A
Higher Cholesterol and Heart Disease Risk
Two copies of the A allele are linked to reduced clearance of LDL cholesterol, resulting in higher blood lipid levels. This genotype is associated with an elevated risk of coronary artery disease and related cardiovascular events.
What this genotype means: Elevated LDL and total cholesterol; Increased risk of coronary artery disease; Higher levels of lipoprotein(a).
Sample genotype (not yours): G/A
Moderately Increased Heart Disease Risk
A single copy of the A risk allele is associated with slightly higher LDL cholesterol levels and a moderate increase in cardiovascular risk. Proactive management of cardiovascular health can help mitigate this genetic predisposition.
What this genotype means: Moderately higher LDL cholesterol; Increased risk of coronary artery disease; Slightly lower risk of abdominal aortic aneurysm.
Gene function and biological role
Gene Function: The PSRC1 gene, located on chromosome 1, is part of a highly studied gene cluster that includes CELSR2 and SORT1. This gene encodes a proline and serine-rich protein that plays a role in microtubule dynamics during cell division. In the liver, genetic variation in this region strongly influences the expression of sortilin, a receptor protein that binds and clears low-density lipoprotein (LDL) cholesterol from the bloodstream [1]. Lower expression of these genes in liver cells reduces the liver's ability to clear circulating lipids [2]. Consequently, this locus is one of the most significant genetic determinants of blood cholesterol levels in the human genome [3].
Variant Impact: Located downstream of the PSRC1 gene, the rs599839 variant acts as a powerful regulator of gene expression in the liver. This genetic change alters how transcription factors bind to the DNA, directly affecting the production of sortilin and neighboring proteins [1]. The G allele is associated with higher expression of these clearance proteins, leading to more efficient removal of cholesterol from the blood [2]. Conversely, the A allele reduces gene expression, resulting in higher levels of circulating low-density lipoprotein (LDL) and other atherogenic particles [3]. This single nucleotide change has been repeatedly linked to both lipid profiles and clinical cardiovascular events across diverse global populations [4].
Key Insight: This single genetic spelling change has an impact on blood cholesterol levels comparable to well-known mutations in the APOE gene.
Location: PSRC1. Chromosome 1 · 1p13.3 · 109.3 Mb
Estimated prevalence by population
Global 18.2%; European 5.2%; African 52.4%; East Asian 0.6%; South Asian 6.4%; Americas 6.9%; Ashkenazi 3.0%; Finnish 5.0%; Middle Eastern 2.5%; Amish 11.7%.
Estimated GG genotype frequency.
Global 36.1%; European 35.2%; African 40.0%; East Asian 14.3%; South Asian 37.8%; Americas 38.8%; Ashkenazi 28.5%; Finnish 34.8%; Middle Eastern 26.5%; Amish 45.0%.
Estimated GA genotype frequency.
Global 45.7%; European 59.6%; African 7.6%; East Asian 85.1%; South Asian 55.8%; Americas 54.3%; Ashkenazi 68.5%; Finnish 60.1%; Middle Eastern 71.0%; Amish 43.3%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
LDL Cholesterol. Evidence: 10/10. Source: PMID 18193043. Lower LDL.
Total Cholesterol. Evidence: 10/10. Source: PMID 28334899. Lower Cholesterol.
HDL Cholesterol. Evidence: 10/10. Source: PMID 29507422. Higher HDL.
Lipoprotein(a) Levels. Evidence: 10/10. Source: PMID 33730874. Lower Levels.
Heart Disease
Coronary Artery Disease. Evidence: 8/10. Source: PMID 17634449. Lower Risk.
Showing effects for A/A genotype
LDL Cholesterol. Evidence: 10/10. Source: PMID 18193043. Higher LDL.
Total Cholesterol. Evidence: 10/10. Source: PMID 28334899. Higher Cholesterol.
HDL Cholesterol. Evidence: 10/10. Source: PMID 29507422. Lower HDL.
Lipoprotein(a) Levels. Evidence: 10/10. Source: PMID 33730874. Higher Levels.
Coronary Artery Disease. Evidence: 8/10. Source: PMID 17634449. ~1.4x Higher Risk.
Showing effects for G/A genotype
LDL Cholesterol. Evidence: 10/10. Source: PMID 18193043. Slightly Higher LDL.
Total Cholesterol. Evidence: 10/10. Source: PMID 28334899. Slightly Higher.
HDL Cholesterol. Evidence: 10/10. Source: PMID 29507422. Slightly Lower HDL.
Lipoprotein(a) Levels. Evidence: 10/10. Source: PMID 33730874. Slightly Higher.
Coronary Artery Disease. Evidence: 8/10. Source: PMID 17634449. ~1.3x Higher Risk.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Inheriting two copies of the G allele promotes robust expression of the sortilin protein in liver cells, which facilitates the rapid removal of low-density lipoprotein (LDL) from circulation [1]. Clinical studies demonstrate that this efficient clearance translates to significantly lower blood levels of total cholesterol, LDL, and triglycerides [2]. Consequently, this genotype is associated with a 36% reduction in the risk of developing abdominal aortic aneurysms [3]. It also provides substantial protection against coronary artery disease and myocardial infarction compared to carriers of the A allele [4]. Maintaining a heart-healthy lifestyle further complements this natural genetic advantage.
Lower LDL cholesterol levels; Reduced risk of coronary artery disease; Lower risk of abdominal aortic aneurysm.
Sample genotype: AA (Homozygous)
Inheriting two copies of the A allele leads to lower expression of key clearance proteins in the liver, which impairs the body's ability to remove LDL cholesterol from the bloodstream [1]. This reduced clearance causes a significant rise in circulating total cholesterol, LDL, and apolipoprotein B levels [2]. Clinical data associates this genotype with a 1.4-fold increase in the risk of coronary artery disease and myocardial infarction [3]. Additionally, these individuals show higher levels of other atherogenic particles, including lipoprotein(a) and intermediate-density lipoprotein (IDL) [4]. Because this genotype is very common, understanding this risk allows for early, targeted lifestyle and medical interventions to protect heart health.
Elevated LDL and total cholesterol; Increased risk of coronary artery disease; Higher levels of lipoprotein(a).
Sample genotype: GA (Heterozygous)
Possessing one copy of each allele results in intermediate expression of cholesterol-clearing receptors in the liver, leading to a moderate rise in circulating LDL cholesterol [1]. Large-scale genomic studies show that this genotype is associated with a 1.3-fold increase in the risk of coronary artery disease [2]. Blood lipid profiles typically show slightly elevated total cholesterol, apolipoprotein B, and very low-density lipoprotein (VLDL) levels [3]. On the positive side, this genotype still offers a slight protective effect against abdominal aortic aneurysms compared to the AA genotype [4]. Standard cardiovascular risk reduction strategies, such as a balanced diet and regular exercise, are highly effective at managing these intermediate lipid levels.
Moderately higher LDL cholesterol; Increased risk of coronary artery disease; Slightly lower risk of abdominal aortic aneurysm.
Variants with shared genetic architecture
rs602633 · PSRC1 Gene · Chr 1 · Coronary Artery Disease Risk
rs1277930 · PSRC1 Gene · Chr 1 · Heart Disease Risk
rs583104 · PSRC1 Gene · Chr 1 · Heart Disease Risk
Mapping the genetic architecture of gene expression in human liver.
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
Genetic analyses of diverse populations improves discovery for complex traits.
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
Content updated August 2026.
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