SORT1 rs1076560: Understanding Your Genetic Cardiovascular Marker
The rs1076560 variant is a common genetic polymorphism located within the SORT1 gene region on chromosome 1p13.3. It is widely recognized in genome-wide association studies for its statistical link to variations in LDL cholesterol levels and overall cardiovascular health.
What each genotype means
Baseline cholesterol risk profile
This genotype represents the common version of the SORT1 variant. Research indicates that individuals with this profile generally exhibit baseline levels of LDL cholesterol associated with this specific genetic locus. Please consult with your healthcare provider to interpret your overall cardiovascular risk in the context of your complete lipid panel and medical history.
This is the most common genotype observed across most global populations.
Modified cholesterol risk profile
Carrying one copy of the T allele at this position is associated with variations in SORT1 expression, which can influence how your liver processes LDL cholesterol. Studies suggest this variant is a significant marker for cardiovascular health, though its effect is one of many factors influencing your cholesterol levels. Discuss your lipid management and cardiovascular health goals with your clinician.
This heterozygous genotype is found at varying frequencies globally, commonly appearing in approximately 30-40% of individuals in many populations.
Distinct cholesterol risk profile
This genotype is associated with altered levels of the sortilin protein, which plays a role in the regulation of LDL cholesterol and cardiovascular risk. While this variant is a known marker for lipid metabolism, it does not act in isolation; your actual cholesterol levels are determined by a combination of genetics, diet, and lifestyle. Please discuss your cardiovascular health and any necessary monitoring with your doctor.
This homozygous genotype is less common than the CC or CT genotypes, typically appearing in a smaller percentage of the general population.
What is the rs1076560 Variant?
The rs1076560 variant is a single-nucleotide polymorphism (SNP) situated in a complex genomic region on chromosome 1p13.3. This specific area of the human genome is highly significant because it contains several genes, including SORT1, CELSR2, and PSRC1, which are often inherited together due to linkage disequilibrium. Because these genes are physically close to one another, it can be challenging for researchers to determine exactly which specific variant is the primary driver of a biological effect. The rs1076560 SNP serves as a marker for this broader genomic neighborhood. While the variant itself is located in a non-coding region, it is frequently studied because it acts as a reliable signpost for identifying individuals who may have different levels of gene expression in the liver, which in turn influences how the body processes cholesterol and lipids.
The Role of the SORT1 Gene
The SORT1 gene provides instructions for creating a protein called sortilin. Sortilin is a multifunctional receptor that plays a critical role in intracellular protein trafficking. In the liver, sortilin is involved in the regulation of very-low-density lipoprotein (VLDL) secretion and the subsequent metabolism of low-density lipoprotein (LDL) cholesterol. Research has shown that the expression levels of SORT1 in the liver are directly correlated with plasma LDL cholesterol concentrations. When sortilin levels are higher, the liver is more efficient at clearing certain lipoproteins from the bloodstream. Conversely, lower levels of sortilin can lead to altered lipid profiles. Because of this regulatory function, the SORT1 gene has become a major focus for scientists studying the biological pathways that contribute to atherosclerotic cardiovascular disease, as it represents a potential target for understanding how lipid metabolism is controlled at the molecular level.
Research Associations and Evidence
The association between the 1p13.3 locus—where rs1076560 resides—and cardiovascular health is supported by extensive evidence from the GWAS Catalog and numerous peer-reviewed studies. Genome-wide association studies have consistently identified this region as having a strong statistical link to LDL cholesterol levels, coronary artery disease, and early-onset myocardial infarction. The evidence is considered moderate to strong in terms of statistical association, meaning that while the link is robust across many populations, it is one of many genetic and environmental factors that influence heart health. It is important to note that these findings are based on population-level data. While the variant is a significant marker, it does not act in isolation; an individual's overall risk for cardiovascular disease is determined by a complex interplay of genetics, lifestyle, diet, and other clinical factors.
Population Frequency and Interpretation
The rs1076560 variant is considered a common polymorphism, meaning it is found at significant frequencies across diverse human populations. Because it is common, many people carry at least one copy of the variant. When interpreting genetic data, it is essential to understand that having a specific genotype does not constitute a medical diagnosis. Genetic markers like rs1076560 provide information about biological predispositions, but they do not predict clinical outcomes with certainty. If you have received information about your genotype for this variant, it is best viewed as a single piece of a much larger puzzle regarding your health. You should never use this information to make changes to prescribed medications or health routines without first consulting with a qualified healthcare provider or a registered pharmacist who can interpret these results in the context of your full medical history.
How common is this variant?
The rs1076560 variant is a common polymorphism found across diverse global populations, with varying allele frequencies observed between different ancestral groups.
Frequently asked questions
Does having the rs1076560 variant mean I have high cholesterol?
No, having a specific genotype for rs1076560 does not mean you have high cholesterol. It is a genetic marker associated with statistical trends in a population, but your actual cholesterol levels are influenced by many factors, including diet, exercise, and other genes.
Can I use this genetic information to change my medication?
You should never change or stop any medication based on genetic test results without consulting your doctor. Always discuss your genetic findings with a healthcare professional or pharmacist who can provide personalized medical advice.
Is rs1076560 a diagnostic test for heart disease?
No, this variant is not a diagnostic test. It is a research-identified marker that helps scientists understand the biological pathways involved in cardiovascular health, not a tool for diagnosing clinical conditions.
Where can I find more information about the SORT1 gene?
You can find reliable information about the SORT1 gene through resources like MedlinePlus Genetics or the NCBI Gene database. These sites provide comprehensive, peer-reviewed summaries of gene functions and their roles in human health.
Sources & further reading
Educational information only, last refreshed 10/4/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Functional regulatory variant altering SORT1 hepatic expression, predisposing to altered LDL cholesterol levels and myocardial infarction risk.
Variant in SORT1 significantly associated with LDL cholesterol levels and coronary artery disease risk.
A regulatory variant at the 1p13 locus near SORT1/CELSR2 that strongly influences LDL-C levels and coronary artery disease risk.
Functional regulatory variant at the 1p13 locus that alters hepatic SORT1 expression, modulating plasma LDL-C levels and coronary artery disease risk.
This SNP is linked to variations in LDL cholesterol levels and risk of coronary artery disease.