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rs12678919 (LPL)

What you carry at this position in your DNA and what research says about it.

Cholesterol and Lipids: 10/10 evidence, 15 publications.

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Sample genotype (not yours): A/A

Typical Lipid Levels and Cardiovascular Risk

Typical levels of triglycerides and HDL cholesterol are expected. There is no genetically lowered risk of metabolic syndrome or coronary artery calcification from this locus.

What this genotype means: Typical triglyceride levels; Typical HDL cholesterol levels; Standard cardiovascular risk profile.

Sample genotype (not yours): A/G

Favorable Lipid Profile and Lower Cardiovascular Risk

Carrying one copy of the G allele is linked to higher HDL cholesterol and lower triglycerides. This profile is associated with a reduced risk of metabolic syndrome and coronary artery calcification.

What this genotype means: Higher HDL cholesterol; Lower triglycerides; Reduced risk of metabolic syndrome.

Sample genotype (not yours): G/G

Highly Favorable Lipid Profile and Lower Cardiovascular Risk

Carrying two copies of the G allele is linked to significantly higher HDL cholesterol and lower triglycerides. This genotype offers the strongest genetic protection against metabolic syndrome and coronary artery calcification at this locus.

What this genotype means: Significantly higher HDL cholesterol; Significantly lower triglycerides; Optimized cardiovascular risk profile.

About LPL

Gene function and biological role

Gene Function: Lipoprotein lipase (LPL) is a crucial enzyme responsible for breaking down triglycerides in circulating lipoproteins like chylomicrons and very low-density lipoproteins [1]. By hydrolyzing these fats, LPL releases free fatty acids that tissues can use for energy or storage [2]. This enzymatic process is a major determinant of plasma lipid levels, directly influencing both triglyceride clearance and the formation of high-density lipoprotein (HDL) cholesterol [1]. Variations in the LPL gene region are frequently linked to metabolic syndrome, dyslipidemia, and cardiovascular health [1] [2].

Variant Impact: Located in an intergenic region near the LPL gene, rs12678919 is a common single-nucleotide variant that acts as a strong genetic marker for lipid metabolism [1]. This genetic variant is highly associated with variations in high-density lipoprotein (HDL) cholesterol and triglyceride levels across diverse populations [1] [3]. The genomic region surrounding this variant is believed to influence LPL expression, thereby altering the rate at which the body processes circulating fats [1]. Consequently, this variant is a key locus studied in relation to coronary artery calcification and metabolic syndrome [4].

Key Insight: The G allele of this variant is linked to a significant increase in HDL cholesterol and a simultaneous reduction in triglycerides, promoting a highly favorable lipid profile.

Location: LPL. Chromosome 8 · 8p21.3 · 20.0 Mb

Genotype Frequencies

Estimated prevalence by population

Global 81.1%; European 81.3%; African 79.1%; East Asian 79.5%; South Asian 81.8%; Americas 85.1%; Ashkenazi 81.2%; Finnish 83.3%; Middle Eastern 80.5%; Amish 71.5%.

Estimated AA genotype frequency.

Global 17.9%; European 17.7%; African 19.7%; East Asian 19.3%; South Asian 17.3%; Americas 14.3%; Ashkenazi 17.9%; Finnish 15.9%; Middle Eastern 18.4%; Amish 26.1%.

Estimated AG genotype frequency.

Global 1.0%; European 1.0%; African 1.2%; East Asian 1.2%; South Asian 0.9%; Americas 0.6%; Ashkenazi 1.0%; Finnish 0.8%; Middle Eastern 1.1%; Amish 2.4%.

Estimated GG genotype frequency.

Associated Traits

Showing effects for A/A genotype

Cardiovascular & Metabolic

Lipids & Cholesterol

HDL Cholesterol. Evidence: 10/10. Source: PMID 20686565. Typical.

Triglycerides. Evidence: 10/10. Source: PMID 20686565. Typical.

Metabolic Syndrome & Insulin Resistance

Metabolic Syndrome. Evidence: 6/10. Source: PMID 38201907. Typical Risk.

Heart Disease

Coronary Artery Disease. Evidence: 4/10. Source: PMID 22916037. Typical Risk.

Showing effects for A/G genotype

HDL Cholesterol. Evidence: 10/10. Source: PMID 20686565. Higher HDL.

Triglycerides. Evidence: 10/10. Source: PMID 20686565. Lower Triglycerides.

Metabolic Syndrome. Evidence: 6/10. Source: PMID 38201907. Lower Risk.

Coronary Artery Disease. Evidence: 4/10. Source: PMID 22916037. Lower Risk.

Showing effects for G/G genotype

HDL Cholesterol. Evidence: 10/10. Source: PMID 20686565. Significantly Higher.

Triglycerides. Evidence: 10/10. Source: PMID 20686565. Significantly Lower.

Metabolic Syndrome. Evidence: 6/10. Source: PMID 38201907. Significantly Lower.

Coronary Artery Disease. Evidence: 4/10. Source: PMID 22916037. Significantly Lower.

What AA Genotype Means

What this genotype means for the people who carry it

Sample genotype: AA (Homozygous)

Standard lipid processing is typical for this common genetic profile [1]. Lacking the protective minor allele, this genotype is associated with baseline levels of circulating triglycerides and high-density lipoprotein (HDL) cholesterol [1] [2]. Large-scale genome-wide association studies show that this typical profile does not confer the lipid-lowering benefits observed in carriers of the G allele [2]. Consequently, there is a standard susceptibility to metabolic syndrome and coronary artery calcification [3]. Maintaining a heart-healthy diet and regular exercise remains important for managing cardiovascular risk factors [4].

Typical triglyceride levels; Typical HDL cholesterol levels; Standard cardiovascular risk profile.

What AG Genotype Means

Sample genotype: AG (Heterozygous)

An improved lipid profile is often observed in individuals with this genotype [1]. Carrying a single copy of the G allele is associated with an increase in high-density lipoprotein (HDL) cholesterol, often referred to as the good cholesterol [1] [2]. Simultaneously, this genetic variation is linked to lower levels of circulating triglycerides, which helps optimize overall lipid clearance [1] [3]. These combined lipid-favorable effects contribute to a lower risk of developing metabolic syndrome [4]. Furthermore, studies suggest a protective trend against coronary artery calcification and subclinical atherosclerosis [5].

Higher HDL cholesterol; Lower triglycerides; Reduced risk of metabolic syndrome.

What GG Genotype Means

Sample genotype: GG (Homozygous)

Optimal lipid clearance and highly favorable cholesterol levels characterize this genetic profile [1]. Having two copies of the G allele is associated with the most pronounced increase in high-density lipoprotein (HDL) cholesterol at this locus [1] [2]. This genotype is also strongly linked to significantly reduced plasma triglyceride levels, facilitating efficient fat metabolism [1] [3]. Because of these highly favorable lipid dynamics, there is a lower risk of metabolic syndrome [4]. Additionally, this profile is associated with reduced coronary artery calcification, indicating a lower genetic susceptibility to arterial plaque buildup [5].

Significantly higher HDL cholesterol; Significantly lower triglycerides; Optimized cardiovascular risk profile.

Related Variants

Variants with shared genetic architecture

rs10096633 · LPL Gene · Chr 8 · Triglycerides and Heart Health

rs115849089 · LPL Gene · Chr 8 · Triglyceride Levels

rs13702 · LPL Gene · Chr 8 · Blood Triglyceride Levels

Sources

Biological, clinical and population relevance of 95 loci for blood lipids.

Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.

Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.

A Genome-Wide Association Study of Metabolic Syndrome in the Taiwanese Population.

Genetic Susceptibility to Lipid Levels and Lipid Change Over Time and Risk of Incident Hyperlipidemia in Chinese Populations.

A large electronic-health-record-based genome-wide study of serum lipids.

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Content updated August 2026.

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