The official name of this gene is “apolipoprotein E.” ApoE is the gene's official symbol.
The ApoE gene provides instructions for making a protein called apolipoprotein E. This protein combines with fats (lipids) in the body to form molecules called lipoproteins. Apolipoprotein E is a major component of a specific type of lipoprotein called very low-density lipoproteins (VLDLs).
There are at least three slightly different versions (alleles) of the ApoE gene. The major alleles are called e2, e3, and e4. The most common allele is e3, which is found in more than half of the general population.
Alzheimer disease - increased risk from variations of the ApoE gene.
The e4 version of the ApoE gene increases an individual's risk for developing late-onset Alzheimer disease. People who inherit one copy of the ApoE e4 allele have an increased chance of developing the disease; those who inherit two copies of the allele are at even greater risk. The ApoE e4 allele may also be associated with an earlier onset of memory loss and other symptoms.
The variations of apolipoprotein E have been studied extensively as risk factors for many different conditions. For example, ApoE alleles have been shown to influence the risk of cardiovascular diseases. People who carry at least one copy of the ApoE e4 allele have an increased chance of developing atherosclerosis, which is an accumulation of fatty deposits and scar-like tissue in the lining of the arteries. This progressive narrowing of the arteries increases the risk of heart attack and stroke.
The ApoE e2 allele has been shown to greatly increase the risk of a rare condition called hyperlipoproteinemia type III. Most people with this disorder have two copies of the ApoE e2 allele, leading researchers to conclude that the e2 allele plays a critical role in the development of the condition.
ApoE gene variants have also been studied as a potential risk factor for age-related macular degeneration, an eye disease that is a leading cause of vision loss among older people worldwide. Some studies have suggested that having at least one copy of the ApoE e4 allele may help protect against this disease or delay the onset of vision loss, while having at least one copy of the ApoE e2 allele may increase the risk of this disease or cause symptoms to appear earlier. However, other studies have not found these associations. More research is needed to clarify what role, if any, ApoE gene variants play in the development of age-related macular degeneration.
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