LDLR rs121913527: Understanding Familial Hypercholesterolemia
The rs121913527 variant is a specific genetic change located within the LDLR gene. It is associated with familial hypercholesterolemia, a condition characterized by significantly elevated levels of low-density lipoprotein (LDL) cholesterol from birth.
What each genotype means
Typical cholesterol processing
This genotype represents the common, non-variant form of this specific location in the LDLR gene. It is not associated with the genetic risk for Familial Hypercholesterolemia described for this variant.
This is the most common genotype found in the general population.
Increased familial hypercholesterolemia risk
This genotype indicates you carry one copy of a variant associated with Familial Hypercholesterolemia, a condition characterized by significantly elevated LDL cholesterol levels from birth. You should discuss these results with a healthcare provider or a lipid specialist to determine if clinical screening or management is appropriate for your cardiovascular health.
This genotype is rare in the general population.
High familial hypercholesterolemia risk
This genotype indicates you carry two copies of a variant associated with Familial Hypercholesterolemia, which can lead to severe, lifelong elevation of LDL cholesterol and an increased risk of early cardiovascular events. It is essential to consult with a medical professional or cardiologist to discuss comprehensive management and monitoring strategies.
This genotype is extremely rare in the general population.
What is the rs121913527 Variant?
The rs121913527 variant is a single nucleotide polymorphism (SNP) found within the LDLR gene, which is located on chromosome 19. In genetics, a SNP represents a variation at a single position in the DNA sequence. When a variant occurs in a gene like LDLR, it can potentially alter the instructions the body uses to build specific proteins. This particular variant is categorized as a trait-associated marker, meaning researchers have observed it in individuals who exhibit specific clinical characteristics. Because it is located in a gene critical for cholesterol regulation, scientists study it to understand how minor changes in our genetic code can lead to significant differences in how our bodies process fats and cholesterol. It is important to note that while this variant is linked to specific health traits, genetic markers are only one piece of a complex biological puzzle that includes diet, lifestyle, and other genetic factors.
The Role of the LDLR Gene
The LDLR gene provides the essential blueprint for creating the low-density lipoprotein receptor protein. These receptors are found on the surface of cells, particularly in the liver, and act like a docking station for LDL particles circulating in the bloodstream. Once an LDL particle binds to the receptor, the cell internalizes it, effectively removing the cholesterol from the blood and helping to maintain healthy levels. When the LDLR gene contains a variant that disrupts this process, the receptors may not be produced in sufficient numbers or may fail to function correctly. This leads to a buildup of LDL cholesterol in the blood, which can eventually deposit in tissues such as the skin, tendons, and the walls of coronary arteries. Understanding this mechanism is fundamental to modern cardiovascular research, as it explains why some individuals face challenges with cholesterol management that are rooted in their biology rather than their daily habits.
Research and Evidence Strength
Current research classifies the evidence linking specific LDLR variants to familial hypercholesterolemia as moderate to strong, depending on the specific mutation. Familial hypercholesterolemia is generally inherited in an autosomal dominant pattern, meaning that inheriting one altered copy of the gene from a parent is often sufficient to cause the condition. Clinical studies have observed that individuals with these variants often show elevated cholesterol levels from a very young age. While the association between LDLR dysfunction and high cholesterol is well-established, the specific impact of individual variants like rs121913527 can vary. Researchers use large-scale genomic databases and clinical studies to track how these variants segregate within families and correlate with health outcomes. Because this is a rare variant, ongoing research is necessary to fully characterize its penetrance and the range of clinical presentations it may cause across different populations.
Population Frequency and Distribution
The rs121913527 variant is considered rare in the general population. In genomics, a variant is typically labeled as rare if it appears in a very small percentage of the population across diverse ancestral groups. Because it is not a common polymorphism, it is not frequently captured in standard population-wide screening tools. Its rarity means that it is primarily identified in clinical settings where individuals are being tested specifically for the cause of early-onset or severe hypercholesterolemia. Genetic frequency can also be influenced by founder effects, where a variant becomes more common in a specific geographic or ethnic community due to historical population patterns. Consequently, the prevalence of this variant may be higher in certain isolated groups compared to the global average. Geneticists continue to monitor these frequencies to better understand the global distribution of hereditary cholesterol conditions.
Interpreting Genetic Information
It is important to understand that identifying a genetic variant is not a medical diagnosis. If you or a family member have concerns about cholesterol levels or a family history of heart disease, the most appropriate step is to consult with a healthcare provider or a genetic counselor. They can interpret genetic test results in the context of your overall health, family history, and current blood work. You should never use information about a genetic variant to make decisions about medication or treatment without professional guidance. If a clinician prescribes medication to manage cholesterol, they will determine the appropriate dosage based on clinical guidelines. Genetic information is a tool for understanding your health risks, but it should always be used in partnership with medical professionals who can provide personalized care and evidence-based recommendations tailored to your specific clinical needs.
How common is this variant?
The rs121913527 variant is rare in the general population, with its frequency varying significantly across different ancestral groups.
Frequently asked questions
What is familial hypercholesterolemia?
Familial hypercholesterolemia is an inherited condition that causes very high levels of LDL cholesterol in the blood from birth. It occurs due to mutations in genes like LDLR that prevent the body from effectively clearing cholesterol.
Can I get tested for this variant?
Yes, genetic testing for LDLR variants is available through clinical laboratories, usually ordered by a doctor or genetic counselor. It is typically recommended for individuals with a strong family history of early heart disease or extremely high cholesterol.
Does having this variant mean I will have a heart attack?
Not necessarily. While this variant increases the risk of high cholesterol, which is a risk factor for heart disease, many people manage their cholesterol levels through lifestyle changes and medical treatments prescribed by their doctors.
Is this condition treatable?
Yes, familial hypercholesterolemia is manageable. Treatment often involves a combination of heart-healthy lifestyle changes and medications, such as statins, to help lower cholesterol levels and reduce cardiovascular risk.
Sources & further reading
Educational information only, last refreshed 10/2/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs121913527?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29Related variants in LDLR
This variant in the LDLR gene is associated with an increased risk of familial hypercholesterolemia.
Pathogenic missense variant altering low-density lipoprotein receptor function and predisposing to severe familial hypercholesterolemia.
This variant in the LDLR gene is associated with hypercholesterolemia.
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.