Apolipoprotein E short for APO-E is produced primarily in the liver and brain which has two primary distinct roles:

1. The transport of lipids from where they are made or absorbed to the tissues where they are stored.
2. The transport of cholesterol and other lipids from the body’s organs to the liver for excretion.

The APOE gene exists in three different forms (alleles) – e2, e3, and e4 – with e3 being the most common allele, found in 60 per cent of the general population. Everyone inherits two APOE genes, one from each parent that is some combination of these three forms.

Recent studies have shown that the APO E gene test is a useful diagnostic test to help confirm a diagnosis of Type III hyperlipoproteinaemia and a diagnosis of late onset Alzheimer’s disease (AD) in a symptomatic adult.

Why get tested?

• If you have elevated cholesterol and triglyceride levels that do not respond to lifestyle changes.
• If you suspect Alzheimer’s disease
• If you have a family history of heart disease

References:

Corder EH, Saunders AM, Strittmatter WJ, et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer’s disease in late onset families. Science. 1993;261(5123):921‐923. doi:10.1126/science.8346443

Marais AD. Apolipoprotein E in lipoprotein metabolism, health and cardiovascular disease. Pathology. 2019;51(2):165-176. doi:10.1016/j.pathol.2018.11.002