LDLR rs1122608: Understanding This Genetic Variant
The rs1122608 variant is a single nucleotide polymorphism located near the LDLR gene, which provides instructions for the low-density lipoprotein receptor. Research has investigated its potential association with coronary artery disease and variations in blood lipid levels, though findings have been mixed across different populations.
What each genotype means
Elevated coronary and triglyceride risk
You carry two copies of the common G allele at the LDLR locus (rs1122608). Large-scale meta-analyses and GWAS associate this genotype with higher baseline plasma triglycerides and a moderately higher risk of coronary artery disease compared to carriers of the minor T allele. However, clinical evidence remains limited and shows ancestry- and sex-specific variability across different populations.
Carried by approximately 60% to 64% of European and South Asian individuals, and is the predominant genotype globally.
Intermediate lipid and cardiovascular profile
You have one copy of the protective T allele and one copy of the standard G allele. Carriers of this heterozygous genotype generally exhibit intermediate triglyceride levels and coronary artery disease risk relative to homozygous counterparts. Because the evidence strength is limited, lifestyle factors and routine lipid screening remain key in assessing individual cardiovascular health.
Carried by roughly 30% to 35% of individuals of European and South Asian ancestry.
Favorable lipid risk profile
You carry two copies of the minor T allele near the LDLR promoter. Published studies link this genotype with lower average circulating triglyceride levels and reduced odds of coronary artery disease compared to the GG genotype. The clinical impact is considered modest and evidence remains limited, meaning it does not eliminate the risk for cardiovascular conditions.
Found in approximately 4% to 5% of individuals of European and South Asian descent.
What is rs1122608?
The rs1122608 variant is a specific change in the DNA sequence, known as a single nucleotide polymorphism (SNP), located on chromosome 19. It is situated in the vicinity of the LDLR gene, which is a critical player in cholesterol metabolism. In genetic research, SNPs like rs1122608 are often studied to determine if they influence how genes are expressed or how proteins are produced. While this variant is often discussed in the context of the LDLR gene, it is important to note that its exact functional impact on the receptor's activity remains a subject of ongoing scientific inquiry. Because it sits in a regulatory region, researchers hypothesize that it might influence the transcription of the LDLR gene, potentially affecting how the body clears cholesterol from the bloodstream.
The Role of the LDLR Gene
The LDLR gene provides the blueprint for the low-density lipoprotein receptor, a protein found on the surface of cells throughout the body. This receptor acts like a molecular gatekeeper, binding to low-density lipoproteins (LDL)—the primary carriers of cholesterol in the blood—and removing them from circulation. By pulling LDL particles into cells, the receptor helps maintain healthy cholesterol levels. When the LDLR gene functions normally, the body effectively manages cholesterol. However, when mutations or variants disrupt this process, it can lead to elevated levels of cholesterol in the blood. Understanding how variants like rs1122608 might interact with this system is a key focus for researchers studying cardiovascular health and the genetic underpinnings of lipid metabolism.
Research Associations and Evidence
Scientific studies have explored the link between rs1122608 and cardiovascular health, with some meta-analyses suggesting an association between the G allele and an increased risk of coronary artery disease. Some research has also pointed to potential correlations with triglyceride levels. However, the evidence is considered limited and sometimes contradictory. For instance, while some studies have observed significant associations in specific male populations, others have not found consistent results across different ethnic groups or genders. It is crucial to recognize that these findings are statistical associations observed in research cohorts, not direct causes of disease. Because the results vary significantly depending on the population studied, the clinical significance of this variant is not yet fully established, and it is not used as a standalone diagnostic tool.
Population Frequency
The rs1122608 variant is relatively common, with a minor allele frequency of approximately 0.20 in European and South Asian populations. This means that a significant portion of these populations carries at least one copy of the variant allele. Because it is a common variant, it is frequently included in large-scale genetic studies, which helps researchers compare its prevalence across diverse ancestral backgrounds. Despite its frequency, the impact of the variant appears to be highly dependent on environmental and other genetic factors, which may explain why its association with health outcomes is not uniform across different global populations.
What You Can Do With This Information
Genetic information regarding variants like rs1122608 is intended for educational purposes and should not be used to make personal health decisions. If you are concerned about your cholesterol levels or your risk for heart disease, the most effective approach is to consult with a healthcare professional. They can evaluate your overall health, including your lipid profile, family history, and lifestyle factors, to provide personalized guidance. Never use genetic data to diagnose yourself or to alter any prescribed medications. If you have questions about how your genetics might influence your response to cholesterol-lowering treatments, discuss these concerns with your doctor or a pharmacist, who can provide evidence-based advice tailored to your specific medical needs.
How common is this variant?
The rs1122608 variant has a minor allele frequency of approximately 0.20 in European and South Asian cohorts, making it a relatively common genetic marker.
Frequently asked questions
Is rs1122608 a cause of high cholesterol?
No, rs1122608 is not considered a direct cause of high cholesterol. While some studies have explored its statistical association with lipid levels, it is not a pathogenic mutation that causes familial hypercholesterolemia.
Should I be worried if I have the G allele?
Having a specific allele does not mean you will develop a health condition. Genetic variants are only one small piece of a complex puzzle that includes your diet, exercise, and overall medical history.
Can this variant predict my risk of heart disease?
Current evidence is insufficient to use this variant as a predictive tool for heart disease. Cardiovascular risk is determined by many factors, and genetic markers like this are not used for clinical risk assessment.
Where can I find more information about my cholesterol risk?
The best source for information about your personal health risk is your primary care physician or a cardiologist. They can perform standard blood tests to accurately measure your cholesterol levels.
Sources & further reading
Educational information only, last refreshed 10/18/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Pathogenic missense variant altering low-density lipoprotein receptor function and predisposing to severe familial hypercholesterolemia.
This pathogenic variant in the LDLR gene is a contributor to familial hypercholesterolemia, leading to significantly elevated LDL cholesterol levels.
Variant in the LDLR 3' UTR region associated with statin efficacy, often studied in East Asian cohorts.
A variant in the 3' UTR of the LDLR gene associated with variations in statin therapeutic response.
Synonymous variant in the LDLR gene associated with plasma LDL cholesterol levels.
This variant is a well-established marker associated with LDL cholesterol levels and risk of coronary artery disease.