LDLR rs1135402784: What Your Genotype Means
The rs1135402784 variant is a specific change located within the LDLR gene. It has been identified in research contexts as being associated with hypercholesterolemia, a condition characterized by high levels of cholesterol in the blood.
What each genotype means
Typical LDLR gene profile
This genotype represents the most common sequence found at this position in the LDLR gene. It is considered the reference or wild-type state, and individuals with this profile do not carry the specific variant associated with familial hypercholesterolemia at this location.
This is the most common genotype observed across all global populations.
Increased risk of hypercholesterolemia
This genotype indicates the presence of one copy of the variant, which is associated with familial hypercholesterolemia. Because this condition often follows a semidominant inheritance pattern, carrying this variant may lead to elevated low-density lipoprotein (LDL) cholesterol levels. Please discuss these results and your lipid profile with your clinician or a cardiologist to determine if further testing or management is appropriate.
This specific genotype is rare and is found at very low frequencies in the general population.
High risk of hypercholesterolemia
This genotype indicates the presence of two copies of the variant, which is associated with familial hypercholesterolemia. This may result in significantly higher LDL cholesterol levels compared to individuals without the variant. It is important to consult with a healthcare provider or a lipid specialist to discuss your cardiovascular health and potential management strategies.
This genotype is extremely rare in the general population.
Understanding the LDLR Gene
The LDLR gene provides instructions for making the low-density lipoprotein receptor protein. These receptors are found on the surface of cells, particularly in the liver, where they act like molecular gatekeepers. Their primary job is to bind to low-density lipoprotein (LDL) particles—often called 'bad' cholesterol—circulating in the bloodstream and pull them into the cell to be broken down. By removing LDL from the blood, these receptors help maintain healthy cholesterol levels. When the LDLR gene contains variants that disrupt the production or function of these receptors, the body may struggle to clear LDL effectively, leading to elevated cholesterol levels in the blood. This process is central to understanding how genetic variations can influence cardiovascular health.
What is rs1135402784?
The rs1135402784 variant is a single nucleotide polymorphism (SNP) located within the sequence of the LDLR gene. In genetics, a SNP represents a variation at a single position in the DNA sequence among individuals. While most SNPs have no effect on health, some occur in critical regions of a gene where they can alter the structure or function of the resulting protein. Researchers track these specific locations using 'rs' identifiers, such as rs1135402784, to standardize communication across the scientific community. By studying where this variant sits in the genome and how it correlates with physical traits, scientists aim to determine if it interferes with the receptor's ability to clear cholesterol. Current catalogs identify this specific variant as having a potential link to hypercholesterolemia, though it remains a subject of ongoing investigation.
Evidence and Research Context
Scientific evidence regarding rs1135402784 is currently categorized as moderate. Research into LDLR variants is extensive because mutations in this gene are the most common genetic drivers of familial hypercholesterolemia. However, not every variant identified in the LDLR gene is pathogenic. Scientists use functional studies—experiments that test how a protein behaves in a lab setting—to confirm whether a specific genetic change actually causes the receptor to malfunction. Because the landscape of human genetic variation is vast, researchers must distinguish between rare variants that cause disease and those that are benign. The association of rs1135402784 with hypercholesterolemia is documented in genetic databases, but it is important to note that clinical interpretation of such variants often requires looking at a person's entire genetic profile and family history.
Interpreting Your Genetic Information
If you encounter this variant in a genetic report, it is essential to understand that genetic information is not a medical diagnosis. A variant associated with a health predisposition does not guarantee that an individual will develop a condition, nor does it replace the need for standard clinical screenings. Cholesterol levels are influenced by a complex interplay of genetics, diet, lifestyle, and environment. If you are concerned about your cholesterol levels or your family history of cardiovascular disease, the most effective step is to consult with a healthcare provider or a genetic counselor. They can interpret your results in the context of your overall health and guide you through appropriate testing, such as a lipid panel, to determine if any medical intervention or lifestyle adjustment is necessary.
How common is this variant?
The rs1135402784 variant is classified as rare in the general population, meaning it is not commonly found across most ancestral groups.
Frequently asked questions
What does it mean if a variant is 'rare'?
A rare variant is one that is found in a very small percentage of the population. In genetics, this often suggests that the variant has not been widely passed down or that it may have significant functional effects that are not common in the general gene pool.
Can I use this information to diagnose myself?
No. Genetic variants are only one piece of a much larger puzzle regarding your health. A diagnosis of hypercholesterolemia must be made by a medical professional based on blood tests and clinical evaluation, not by looking at a single genetic variant.
Should I change my diet based on this result?
You should not make significant changes to your diet or lifestyle based solely on a genetic report. Always discuss your genetic findings with your doctor or a registered dietitian to create a plan that is safe and appropriate for your specific health needs.
Where can I find more information about LDLR?
You can visit reputable resources like MedlinePlus Genetics or the NCBI Gene database. These sites provide comprehensive, peer-reviewed information about the function of the LDLR gene and its role in human health.
Sources & further reading
Educational information only, last refreshed 10/8/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Get my report — $29Related variants in LDLR
This variant is a pathogenic mutation in the LDLR gene associated with familial hypercholesterolemia.
This pathogenic variant in the LDLR gene is a novel contributor to familial hypercholesterolemia, leading to significantly elevated LDL cholesterol levels.
This mutation is associated with familial hypercholesterolemia, leading to significantly elevated LDL cholesterol levels.
Causes high cholesterol from birth (Familial Hypercholesterolemia).
This SNP is a known pathogenic mutation contributing to severe hypercholesterolemia phenotypes.
A clinically significant variant in the LDLR gene associated with high LDL cholesterol levels.