What you carry at this position in your DNA and what research says about it.
Cholesterol Levels: 8/10 evidence, 18 publications.
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Sample genotype (not yours): C/C
Typical Cholesterol Levels and Baseline Health Risks
Typical cholesterol levels and baseline risk for cardiovascular and cognitive conditions are expected.
What this genotype means: Typical cholesterol clearance; Baseline cardiovascular risk; Typical cognitive health profile.
Sample genotype (not yours): C/T
Slightly Elevated Cholesterol Risk in Females
Slightly higher total and LDL cholesterol levels may occur, particularly in females.
What this genotype means: Potential for higher LDL cholesterol in females; Slightly elevated cardiovascular risk; Typical cognitive health profile.
Sample genotype (not yours): T/T
Elevated Cholesterol and Higher Male Alzheimer's Risk
Elevated total and LDL cholesterol levels, along with an increased risk of Alzheimer's disease in males, are associated with this genotype.
What this genotype means: Elevated LDL and total cholesterol; Increased coronary artery disease risk; Higher Alzheimer's risk in males.
Gene function and biological role
Gene Function: The low-density lipoprotein receptor gene encodes a cell-surface glycoprotein that binds and internalizes circulating low-density lipoprotein particles [1]. This receptor is a key regulator of blood cholesterol levels, helping to clear excess lipids from the bloodstream [1]. Beyond its role in cardiovascular health, this receptor is also highly expressed in the brain, where it serves as a major receptor for apolipoprotein E [2]. Through this pathway, it influences lipid metabolism in the central nervous system and plays a role in cognitive health [2]. Common variations in this gene can alter receptor function and affect susceptibility to cardiovascular and neurodegenerative conditions [3].
Variant Impact: A synonymous single nucleotide change in exon 12 alters an exonic splicing enhancer, reducing the efficiency of low-density lipoprotein receptor splicing [2]. This molecular shift leads to a lower proportion of fully functional receptors on cell surfaces [2]. Although this change is classified as benign for severe familial hypercholesterolemia, it significantly influences common lipid levels [4]. The altered splicing efficiency varies by tissue and sex, leading to distinct physiological outcomes in males and females [2]. Consequently, this variant is associated with subtle but important differences in both cardiovascular and cognitive health profiles [3].
Key Insight: The same genetic variant affects cardiovascular health in women and cognitive health in men due to sex-specific differences in how the gene is spliced in the liver versus the brain.
Location: LDLR. Chromosome 19 · 19p13.2 · 11.1 Mb
Estimated prevalence by population
Global 46.2%; European 31.7%; African 79.8%; East Asian 68.5%; South Asian 36.9%; Americas 32.9%; Ashkenazi 33.8%; Finnish 25.7%; Middle Eastern 33.4%; Amish 42.3%.
Estimated CC genotype frequency.
Global 40.1%; European 49.2%; African 19.0%; East Asian 28.5%; South Asian 47.7%; Americas 48.9%; Ashkenazi 48.7%; Finnish 50.0%; Middle Eastern 48.8%; Amish 45.5%.
Estimated CT genotype frequency.
Global 13.7%; European 19.1%; African 1.1%; East Asian 3.0%; South Asian 15.4%; Americas 18.2%; Ashkenazi 17.5%; Finnish 24.3%; Middle Eastern 17.8%; Amish 12.2%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
LDL Cholesterol. Evidence: 8/10. Source: PMID 29507422. Typical.
Total Cholesterol. Evidence: 8/10. Source: PMID 29507422. Typical.
Heart Disease
Heart Disease. Evidence: 3/10. Source: PMID 29843469. Typical.
Neurology & Mental Health
Neurodegenerative Diseases
Alzheimer's Disease. Evidence: 3/10. Source: PMID 23297366. Typical.
Pharmacogenomics
Lipid-Lowering Drug Response
Lovastatin Response. Evidence: 5/10. Source: PMID 16103896. Typical.
Showing effects for C/T genotype
LDL Cholesterol. Evidence: 8/10. Source: PMID 29507422. Higher in Females.
Total Cholesterol. Evidence: 8/10. Source: PMID 29507422. Higher in Females.
Heart Disease. Evidence: 3/10. Source: PMID 29843469. Increased Risk.
Showing effects for T/T genotype
LDL Cholesterol. Evidence: 8/10. Source: PMID 29507422. Elevated.
Total Cholesterol. Evidence: 8/10. Source: PMID 29507422. Elevated.
Heart Disease. Evidence: 3/10. Source: PMID 29843469. ~3x Higher Risk.
Alzheimer's Disease. Evidence: 3/10. Source: PMID 23297366. ~1.5x Male Risk.
Lovastatin Response. Evidence: 5/10. Source: PMID 16103896. Stronger Response.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Typical low-density lipoprotein receptor function is maintained with this genotype, ensuring efficient clearance of cholesterol from the bloodstream [1]. Individuals carrying these alleles generally exhibit baseline levels of total and LDL cholesterol [2]. This genotype is associated with a normal risk profile for cardiovascular complications, avoiding the elevated risks linked to the variant allele [3]. In the brain, normal receptor splicing supports typical apolipoprotein E metabolism [1]. Consequently, males with this genotype do not experience the elevated risk of Alzheimer's disease associated with alternative splicing [1]. Research indicates that standard lipid management strategies are highly effective for this group [2]. Overall, this genetic profile represents the typical baseline for lipid regulation and associated health outcomes [2].
Typical cholesterol clearance; Baseline cardiovascular risk; Typical cognitive health profile.
Sample genotype: CT (Heterozygous)
Slightly reduced low-density lipoprotein receptor splicing efficiency is associated with carrying one copy of the variant allele [1]. This subtle molecular change can lead to higher total and LDL cholesterol levels, particularly in female carriers [2]. In pre-menopausal women, this variant is linked to a notable increase in circulating lipids [2]. Despite these lipid differences, cognitive health risks remain at baseline, as one copy of the variant does not significantly elevate Alzheimer's risk [1]. Cardiovascular risk may be slightly elevated compared to the typical genotype, reflecting the modest rise in blood lipids [3]. Standard lifestyle interventions, such as dietary modifications, remain the primary approach for managing lipid levels [2]. Regular lipid panels can help monitor any sex-specific trends in cholesterol accumulation [2].
Potential for higher LDL cholesterol in females; Slightly elevated cardiovascular risk; Typical cognitive health profile.
Sample genotype: TT (Homozygous)
Significantly reduced low-density lipoprotein receptor splicing efficiency occurs with this genotype, leading to fewer functional receptors [1]. This molecular deficit is associated with elevated total and LDL cholesterol levels, especially in females [2]. In addition to lipid changes, males with this genotype face an estimated 1.5-fold higher risk of Alzheimer's disease [1]. This cognitive link is thought to stem from altered apolipoprotein E metabolism in the brain due to inefficient receptor splicing [1]. Cardiovascular health is also impacted, with studies showing an increased susceptibility to coronary artery disease [3]. Interestingly, clinical data suggests that individuals with this genotype may show an enhanced response to certain cholesterol-lowering medications like lovastatin [4]. Proactive cardiovascular monitoring and personalized lipid management are often recommended for carriers [2].
Elevated LDL and total cholesterol; Increased coronary artery disease risk; Higher Alzheimer's risk in males; Potentially enhanced response to lovastatin.
Variants with shared genetic architecture
rs139624145 · LDLR Gene · Chr 19 · Familial Hypercholesterolemia
rs112029328 · LDLR Gene · Chr 19 · Familial Hypercholesterolemia
rs121908024 · LDLR Gene · Chr 19 · Severe Cholesterol Risk
A common polymorphism in the LDL receptor gene has multiple effects on LDL receptor function.
An association study of 43 SNPs in 16 candidate genes with atorvastatin response.
Content updated August 2026.
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