What will the cardiovascular disease (APOE) DNA test results tell me?
Cardiovascular disease is a very common disease causing more than 30 million heart attacks and strokes worldwide every year. Various factors contribute to the risk of cardiovascular disease, including poor diet, smoking, excess body weight, physical inactivity, excess alcohol consumption, other disorders and genetics. The APOE gene encodes the ApoE protein that is important for the normal metabolism of cholesterol and other lipids. Inherited variations in the APOE gene affect the protein’s ability to metabolize cholesterol and triglycerides.
Neutral (homozygous e3/e3)
A neutral result means that the person carries two copies of the APOE e3allele. This is the most common allele and is a neutral allele, meaning it is not associated with an increased risk of elevated LDL-cholesterol, hyperlipoproteinemia type III, cardiovascular disease or diabetes. This person will respond well to statins if they are required to lower blood cholesterol. There is a 100% chance that this person will pass the neutral APOE e3allele to the next generation.
Increased Risk of Hyperlipoproteinemia Type III (homozygous e2/e2)
This person has inherited two copies of the APOE e2 allele and is at an increased risk of hyperlipoproteinemia type III, which can lead to cardiovascular disease and diabetes. This disorder does not occur in everyone with this genotype, as other factors are also involved. This person will benefit most from a diet low in sugar and carbohydrates and will respond well to statins if they are required to lower blood cholesterol. There is a 100% chance that this person will pass the APOE e2 allele to the next generation.
No Risk Association (heterozygous e2/e3)
This person has inherited one copy of the APOE e2 allele and one copy of the neutral APOE e3 allele. This person is unlikely to have an increased risk of elevated LDL-cholesterol or hyperlipoproteinemia type III. This person will respond well to statins if they are required to lower blood cholesterol. There is a 50% chance that they will pass the APOE e2 allele to the next generation and a 50% chance that they will pass the neutral APOE e3 allele to the next generation.
Increased Risk of Elevated LDL-Cholesterol (heterozygous e3/e4)
An increased risk of elevated LDL-cholesterol (heterozygous) result means that the person has inherited one copy of the APOE e4 allele and one copy of the neutral APOE e3 allele. This person has an increased risk of cardiovascular disease due to elevated LDL-cholesterol levels. This person will benefit most from a low-fat diet and may not respond efficiently to statins to lower blood cholesterol. This person has a 50% chance of passing the APOE e4 allele to the next generation and a 50% chance that they will pass the neutral APOE e3 allele to the next generation.
Increased Risk of Elevated LDL-Cholesterol (homozygous e4/e4)
An increased risk of elevated LDL-cholesterol (homozygous) result means that the person has inherited two copies of the APOE e4 allele, one from each parent. This person has an increased risk of cardiovascular disease due to elevated LDL-cholesterol levels. This person will benefit most from a low-fat diet and may not respond efficiently to statins to lower blood cholesterol. There is a 100% chance that an affected individual with a homozygous genotype will pass the APOE e4allele to the next generation.
Possible Increased Risk of Elevated LDL-Cholesterol (heterozygous e2/e4)
This person has inherited one copy of the APOE e2 allele and one copy of the APOE e4 allele. This rare genotype has been the least well studied and results have been conflicting. Some studies indicate that it is associated with an increased risk of elevated LDL-cholesterol levels (due to the presence of the e4allele). However, other studies indicate that it is associated with a similar neutral phenotype to the e3/e3 genotype. There is a 50% chance that they will pass the APOE e2 allele to the next generation and a 50% chance that they will pass the APOE e4 allele to the next generation.
