What you carry at this position in your DNA and what research says about it.
Heart Disease Risk: 7/10 evidence, 64 publications.
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Sample genotype (not yours): C/C
Typical Heart and Lipid Profile
This genotype is the most common globally and represents the standard baseline for lipid metabolism. It is associated with typical triglyceride and HDL cholesterol levels, as well as standard cardiovascular risk.
What this genotype means: Typical triglyceride clearance; Standard HDL cholesterol levels; Baseline cardiovascular risk.
Sample genotype (not yours): C/G
Favorable Lipid Profile and Lower Heart Risk
Carrying one copy of the beneficial G allele leads to more efficient triglyceride clearance. This results in lower blood triglyceride levels, higher HDL cholesterol, and a reduced risk of heart disease.
What this genotype means: More efficient triglyceride clearance; Higher protective HDL cholesterol; Reduced risk of coronary artery disease.
Sample genotype (not yours): G/G
Optimal Lipid Profile and Lowest Heart Risk
Carrying two copies of the beneficial G allele maximizes triglyceride clearance. This genotype is associated with the lowest triglyceride levels, highest HDL cholesterol, and a significantly reduced risk of cardiovascular disease.
What this genotype means: Highly efficient triglyceride clearance; Elevated protective HDL cholesterol; Significantly lower cardiovascular risk.
Gene function and biological role
Gene Function: The LPL gene encodes lipoprotein lipase, a crucial enzyme responsible for breaking down triglycerides in the bloodstream [1]. Produced mainly in fat and muscle tissues, it clears fat-carrying particles like chylomicrons and very-low-density lipoproteins [1]. This enzyme plays a central role in lipid transport and energy metabolism [1]. Variations in this gene can significantly alter lipid profiles, affecting cardiovascular disease susceptibility [2]. Some mutations cause severe deficiency, while others enhance enzyme activity [3].
Variant Impact: This variant, rs328, is a stop-gained mutation (p.Ser474Ter) in the LPL gene [1]. It replaces a serine codon with a premature stop codon, truncating the protein by two amino acids at the C-terminus [1]. Interestingly, this truncation acts as a gain-of-function change, making the enzyme more efficient at clearing triglycerides [4]. Consequently, carriers of the truncated version tend to have lower circulating triglycerides and higher HDL cholesterol [4]. This variant is widely studied for its protective effects against cardiovascular and metabolic diseases [5].
Key Insight: Unlike most stop-codon mutations which disable proteins, this truncation actually boosts enzyme activity, acting as a beneficial gain-of-function variant.
Location: LPL. Chromosome 8 · 8p21.3 · 20.0 Mb
Estimated prevalence by population
Global 82.8%; European 80.8%; African 86.5%; East Asian 79.4%; South Asian 81.7%; Americas 84.9%; Ashkenazi 80.1%; Finnish 82.6%; Middle Eastern 81.3%; Amish 71.5%.
Estimated CC genotype frequency.
Global 16.4%; European 18.2%; African 13.1%; East Asian 19.4%; South Asian 17.4%; Americas 14.5%; Ashkenazi 18.8%; Finnish 16.5%; Middle Eastern 17.8%; Amish 26.1%.
Estimated CG genotype frequency.
Global 0.8%; European 1.0%; African 0.5%; East Asian 1.2%; South Asian 0.9%; Americas 0.6%; Ashkenazi 1.1%; Finnish 0.8%; Middle Eastern 1.0%; Amish 2.4%.
Estimated GG genotype frequency.
Showing effects for C/C genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
Triglycerides. Evidence: 10/10. Source: PMID 18193044. Typical Levels.
HDL Cholesterol. Evidence: 10/10. Source: PMID 18193044. Typical Levels.
Heart Disease
Heart Disease. Evidence: 7/10. Source: PMID 32469254. Typical Risk.
Diabetes & Glycemic Traits
Type 2 Diabetes. Evidence: 7/10. Source: PMID 29632382. Typical Risk.
Metabolic Syndrome & Insulin Resistance
Metabolic Syndrome. Evidence: 8/10. Source: PMID 38201907. Typical Risk.
Pharmacogenomics
Lipid-Lowering Drug Response
Pravastatin Response. Evidence: 5/10. Source: PMID 16103896. Typical Response.
Showing effects for C/G genotype
Triglycerides. Evidence: 10/10. Source: PMID 18193044. ~10% Lower Levels.
HDL Cholesterol. Evidence: 10/10. Source: PMID 18193044. Slightly Higher.
Heart Disease. Evidence: 7/10. Source: PMID 32469254. Lower Risk.
Type 2 Diabetes. Evidence: 7/10. Source: PMID 29632382. Slightly Lower Risk.
Metabolic Syndrome. Evidence: 8/10. Source: PMID 38201907. Lower Risk.
Showing effects for G/G genotype
Triglycerides. Evidence: 10/10. Source: PMID 18193044. ~20% Lower Levels.
HDL Cholesterol. Evidence: 10/10. Source: PMID 18193044. Higher Levels.
Heart Disease. Evidence: 7/10. Source: PMID 32469254. Lowest Risk.
Type 2 Diabetes. Evidence: 7/10. Source: PMID 29632382. Lower Risk.
Metabolic Syndrome. Evidence: 8/10. Source: PMID 38201907. Lowest Risk.
Pravastatin Response. Evidence: 5/10. Source: PMID 16103896. Stronger Response.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Having two copies of the C allele means the body produces the standard, full-length lipoprotein lipase enzyme [1]. This results in typical clearance rates of triglycerides from the bloodstream after meals [1]. Consequently, individuals with this genotype exhibit baseline levels of circulating triglycerides and HDL cholesterol [2]. There is no elevated risk of cardiovascular or metabolic diseases compared to the general population, but they do not benefit from the protective effects of the truncated variant [3]. Standard lifestyle recommendations, such as maintaining a balanced diet and regular exercise, are sufficient to support heart health. Monitoring lipid panels during routine checkups remains important to track cardiovascular wellness over time. Engaging in regular aerobic exercise can help maintain optimal lipid levels. Avoiding high-intake of simple sugars also supports healthy triglyceride clearance.
Typical triglyceride clearance; Standard HDL cholesterol levels; Baseline cardiovascular risk.
Sample genotype: CG (Heterozygous)
Inheriting one copy of the G allele produces a mix of standard and truncated lipoprotein lipase enzymes [1]. The truncated enzyme is highly active, which accelerates the breakdown of triglyceride-rich particles in the blood [1]. This enhanced clearance typically lowers circulating triglycerides and raises protective HDL cholesterol [2]. Large-scale genomic studies show that carriers of this variant have a reduced risk of developing coronary artery disease and metabolic syndrome [3]. Additionally, this favorable lipid profile may offer some protection against type 2 diabetes [4]. Maintaining a healthy diet rich in unsaturated fats can further optimize these genetic cardiovascular benefits. Regular physical activity also synergizes with this variant to support vascular health. Routine lipid screenings can confirm these favorable baseline levels.
More efficient triglyceride clearance; Higher protective HDL cholesterol; Reduced risk of coronary artery disease.
Sample genotype: GG (Homozygous)
Having two copies of the G allele means all produced lipoprotein lipase enzymes are in the highly active, truncated form [1]. This maximizes the clearance of fat-carrying particles from the bloodstream, leading to exceptionally favorable lipid levels [1]. Circulating triglycerides are significantly lower, while protective HDL cholesterol levels are elevated [2]. This optimal lipid balance translates to the lowest risk of coronary artery disease, metabolic syndrome, and type 2 diabetes among all genotypes [3]. Research also suggests that individuals with this genotype may experience an enhanced cholesterol-lowering response to pravastatin therapy [4]. Emphasizing cardiovascular wellness through regular physical activity can complement this highly protective genetic profile. A diet rich in omega-3 fatty acids can further support healthy lipid metabolism. These combined factors contribute to an inherently robust cardiovascular system.
Highly efficient triglyceride clearance; Elevated protective HDL cholesterol; Significantly lower cardiovascular risk; Potentially enhanced response to pravastatin.
Variants with shared genetic architecture
rs10096633 · LPL Gene · Chr 8 · Triglycerides and Heart Health
rs115849089 · LPL Gene · Chr 8 · Triglyceride Levels
rs12678919 · LPL Gene · Chr 8 · Cholesterol and Lipids
Genetic architecture of human plasma lipidome and its link to cardiovascular disease.
An association study of 43 SNPs in 16 candidate genes with atorvastatin response.
Content updated August 2026.
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