What you carry at this position in your DNA and what research says about it.
Heart Disease Risk: 10/10 evidence, 34 publications.
You're viewing every possible genotype for this variant.
None of these is your result. Use the genotype toggle to compare them, then sign up and upload your DNA to see which one is yours.
Sample genotype (not yours): G/G
Typical Heart Disease Risk
Baseline levels of triglycerides and HDL cholesterol are expected. The risk of developing coronary artery disease and type 2 diabetes is typical for the general population.
What this genotype means: Typical triglyceride clearance; Baseline risk of coronary artery disease.
Sample genotype (not yours): A/A
Significantly Lower Heart Disease Risk
Triglyceride levels are substantially lower, and HDL cholesterol is significantly higher. This genetic profile offers strong protection against coronary artery disease and type 2 diabetes.
What this genotype means: Highly efficient triglyceride clearance; Strongly reduced risk of coronary artery disease; Significantly higher HDL cholesterol.
Sample genotype (not yours): G/A
Lower Heart Disease Risk
Blood triglyceride levels are typically lower, while HDL cholesterol is higher. This favorable lipid profile is associated with a reduced risk of coronary artery disease and type 2 diabetes.
What this genotype means: Enhanced triglyceride clearance; Reduced risk of coronary artery disease; Higher HDL cholesterol.
Gene function and biological role
Gene Function: Angiopoietin-like 4, encoded by the ANGPTL4 gene, is a key regulator of lipid metabolism that primarily acts by inhibiting lipoprotein lipase, an enzyme responsible for clearing triglycerides from the bloodstream. By blocking this enzyme, the protein helps maintain circulating lipid levels during fasting and feeding cycles. Suppressing or reducing the activity of this gene leads to enhanced clearance of triglyceride-rich lipoproteins. Consequently, genetic variations that impair ANGPTL4 function are associated with lower blood lipid levels and a reduced risk of cardiovascular disease.
Variant Impact: The rs116843064 variant represents a missense mutation (p.Glu40Lys or E40K) in the ANGPTL4 gene where glutamate is replaced by lysine at position 40. This specific amino acid change prevents the ANGPTL4 protein from forming oligomers, which are essential for its ability to inhibit lipoprotein lipase. Because the protein cannot properly block the enzyme, carriers of the variant allele experience continuous, highly efficient clearance of triglycerides from their blood. This loss-of-function effect translates directly into a highly favorable lipid profile and a lower risk of heart disease.
Key Insight: A single letter change in this gene acts as a natural shield against heart disease by disabling a protein that normally keeps fat circulating in your blood.
Location: ANGPTL4. Chromosome 19 · 19p13.2 · 8.4 Mb
Estimated prevalence by population
Global 97.0%; European 95.9%; African 99.4%; East Asian 100.0%; South Asian 99.8%; Americas 95.3%; Ashkenazi 96.7%; Finnish 95.0%; Middle Eastern 100.0%; Amish 92.9%.
Estimated GG genotype frequency.
Global 2.9%; European 4.1%; African 0.6%; East Asian 0.0%; South Asian 0.2%; Americas 4.6%; Ashkenazi 3.3%; Finnish 5.0%; Middle Eastern 0.0%; Amish 7.0%.
Estimated GA genotype frequency.
Global < 0.1%; European < 0.1%; African < 0.1%; East Asian 0.0%; South Asian < 0.1%; Americas 0.1%; Ashkenazi < 0.1%; Finnish 0.1%; Middle Eastern 0.0%; Amish 0.1%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Heart Disease
Coronary Artery Disease. Evidence: 10/10. Source: PMID 24507774. Typical Risk.
Heart Attack. Evidence: 6/10. Source: PMID 33532862. Typical Risk.
Lipids & Cholesterol
Triglycerides. Evidence: 10/10. Source: PMID 24507774. Typical Levels.
HDL Cholesterol. Evidence: 10/10. Source: PMID 24507774. Typical Levels.
Diabetes & Glycemic Traits
Type 2 Diabetes. Evidence: 10/10. Source: PMID 38062574. Typical Risk.
Blood Cell & Iron Traits
Red Cell Distribution Width. Evidence: 9/10. Source: PMID 32888493. Typical.
Showing effects for A/A genotype
Coronary Artery Disease. Evidence: 10/10. Source: PMID 24507774. Significantly Lower.
Heart Attack. Evidence: 6/10. Source: PMID 33532862. Significantly Lower.
Triglycerides. Evidence: 10/10. Source: PMID 24507774. Significantly Lower.
HDL Cholesterol. Evidence: 10/10. Source: PMID 24507774. Significantly Higher.
Type 2 Diabetes. Evidence: 10/10. Source: PMID 38062574. Significantly Lower.
Red Cell Distribution Width. Evidence: 9/10. Source: PMID 32888493. Higher.
Showing effects for G/A genotype
Coronary Artery Disease. Evidence: 10/10. Source: PMID 24507774. ~15% Lower Risk.
Heart Attack. Evidence: 6/10. Source: PMID 33532862. ~15% Lower Risk.
Triglycerides. Evidence: 10/10. Source: PMID 24507774. Lower Levels.
HDL Cholesterol. Evidence: 10/10. Source: PMID 24507774. Higher Levels.
Type 2 Diabetes. Evidence: 10/10. Source: PMID 38062574. Lower Risk.
Red Cell Distribution Width. Evidence: 9/10. Source: PMID 32888493. Slightly Higher.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Glutamate is present at position 40 of the ANGPTL4 protein, allowing it to form normal oligomers and regulate lipoprotein lipase activity as expected. This typical protein function maintains standard rates of triglyceride clearance from the bloodstream. As a result, blood lipid profiles, including triglycerides and HDL cholesterol, generally align with population averages. There is no genetically driven reduction in cardiovascular risk, meaning the likelihood of developing coronary artery disease or experiencing a myocardial infarction remains at baseline. Similarly, the risk of developing type 2 diabetes is typical, without the protective effect seen in carriers of the variant allele. Maintaining a heart-healthy lifestyle through diet and exercise remains the primary way to manage cardiovascular health.
Typical triglyceride clearance; Baseline risk of coronary artery disease.
Sample genotype: AA (Homozygous)
Having two copies of the lysine variant completely prevents the ANGPTL4 protein from forming the oligomers required to inhibit lipoprotein lipase. This complete loss of protein function allows lipoprotein lipase to operate at maximum efficiency, rapidly clearing triglycerides from circulation. Clinical data indicate that individuals with this genotype experience a dramatic reduction in blood triglycerides, often accompanied by a notable increase in protective HDL cholesterol. The resulting lipid profile provides robust protection against cardiovascular complications, significantly lowering the odds of coronary artery disease. The risk of experiencing a myocardial infarction is also substantially reduced compared to the general population. Furthermore, this genotype is associated with a lower risk of developing type 2 diabetes. Because this genotype is extremely rare, occurring in less than 0.1% of most populations, it represents a highly unique genetic shield against cardiovascular disease.
Highly efficient triglyceride clearance; Strongly reduced risk of coronary artery disease; Significantly higher HDL cholesterol.
Sample genotype: GA (Heterozygous)
Possessing one copy of the lysine variant at position 40 disrupts the oligomerization of the ANGPTL4 protein, reducing its ability to inhibit lipoprotein lipase. With less active inhibitor present, lipoprotein lipase clears triglycerides from the bloodstream more rapidly and efficiently. Large-scale genetic studies show that carriers of this single variant copy have significantly lower circulating triglycerides and higher HDL cholesterol levels. This improved lipid profile translates to an approximately 15% to 19% lower risk of developing coronary artery disease. Additionally, this genetic profile is linked to a reduced risk of myocardial infarction and type 2 diabetes. These findings suggest that targeting the ANGPTL4 pathway could be a powerful therapeutic strategy for cardiovascular protection.
Enhanced triglyceride clearance; Reduced risk of coronary artery disease; Higher HDL cholesterol.
Variants with shared genetic architecture
rs12678919 · LPL Gene · Chr 8 · Cholesterol and Lipids
rs13702 · LPL Gene · Chr 8 · Blood Triglyceride Levels
rs325 · LPL Gene · Chr 8 · Cholesterol and Lipids
Content updated August 2026.
ReadYourDNA provides educational interpretation of DNA data you already have. It is not diagnostic, not a substitute for professional medical advice, diagnosis, or treatment, and is not intended to diagnose, treat, cure, or prevent any disease. Talk to a clinician before acting on any result.
Raw DNA Data Reports for 23andMe & AncestryDNA · About ReadYourDNA · FAQ · Methodology & Science · Pricing · Support and complaints · Legal & Contact · Health Traits · Pharmacogenomics · Carrier Status · Variant Explorer · The Human Karyotype · Privacy Policy · Terms of Service · Accessibility · Consumer Health Data Privacy · Your Privacy Choices · Editorial Standards · Your Data, Checkable · Sample Report · ReadYourDNA and Promethease compared · What is inside a 23andMe raw data file · What is inside an AncestryDNA raw data file · What a chatbot can and cannot do with your raw DNA file · Where a raw DNA file can still be uploaded in 2026
Written, maintained and operated by Martin Pechhacker, sole proprietor, Vienna, Austria. Trade register GISA 40064420. support@readyourdna.com