Apolipoprotein E (ApoE) is an important regulator of cholesterol and triglyceride levels in your blood and supports lipid transport and injury repair in your brain.¹

Alzheimer's disease (AD) is a progressive disease associated with the aggregation of proteins called amyloidß (Aß) and tau, which deposit in AD brains as plaques and tangles. These plaques and tangles injure synapses in your brain and ultimately cause neurodegeneration and dementia.^2,3

AD usually occurs later in life (>65 years) and is referred to as late-onset AD (LOAD). Although multiple genetic and environmental risk factors are involved in LOAD, impairment in Aß clearance by ApoE is a major contributor to development of the disease.⁴

There are three different forms of the ApoE gene known as E2, E3 and E4 alleles. Genetically, E4 is the strongest risk factor for developing LOAD.^5-7 According to the National Institute of Health, inheriting a single copy of ApoE4 from a parent increases the risk of Alzheimer's disease by about three-fold. Inheriting two copies, one from each parent, increases the risk by about 12-fold.⁸ In fact almost 40% of AD patients have inherited an E4 allele.⁹

In the cardiovascular system ApoE is involved in the transportation of fat molecules out of circulation and into your cells.¹⁰ Each of the allele variations, E2, E3 and E4 mediate cholesterol metabolism in a different manner. E4 is associated with increased levels of cholesterol and triglycerides, which leads to atherosclerosis, heart disease and stroke.¹¹

This panel identifies your risk category so you can take important steps to change your lifestyle before symptoms become evident!

Sample Report

It is important to understand that although carrying the ApoE E4 allele increases your likelihood of developing disease, it does not mean that you will. Genetic testing is about probabilities, not guarantees - and should always be interpreted in the light of other considerations such as age, family history, environmental factors, ethnicity, and other coexisting medical conditions.

Instructions

The following documents provide a full set of instructions for completing the test:

Instructions

Note

Results take 2-3 weeks from when specimen is received. This test is not available in Pennsylvania. The results for this test can only be received via mail, e-mail, or fax. Since gene variants do not change over time, each person needs to be tested only once in their lifetime.

References

1. Mahley RW et al. Apolipoprotein E: Far More Than a Lipid Transport Protein. Annu Rev Genomics Hum Genet. 2000; 1:507-537.
2. Hardy, J. & Selkoe, D. J. The amyloid hypothesis of Alzheimer’s disease: progress and problems on the road to therapeutics. Science 297, 353–356 (2002).
3. Blennow, K., de Leon, M. J. & Zetterberg, H. Alzheimer’s disease. Lancet 368, 387–403 (2006).
4. Mawuenyega, K. G. et al. Decreased clearance of CNS ß-amyloid in Alzheimer’s disease. Science 330, 1774 (2010).
5. Corder, E. H. et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer’s disease in late onset families. Science 261, 921–923 (1993).
6. Bu, G. Apolipoprotein E and its receptors in Alzheimer’s disease: pathways, pathogenesis and therapy. Nat. Rev. Neurosci. 10, 333–344 (2009).
7. Huang, Y. & Mucke, L. Alzheimer mechanisms and therapeutic strategies. Cell 148, 1204–1222 (2012).
8. https://www.nih.gov/news-events/news-releases/nih-funded-research-provides-new-clues-how-apoe4-affects-alzheimers-risk
9. Farrer, L. A. et al. Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease: a meta-analysis. JAMA 278, 1349–1356 (1997).
10. Hyperlipoporteinemia Type III. https://rarediseases.org/rare-diseases/hyperlipoproteinemia-type-iii/
11. https://www.alz.org/alzheimers-dementia/research_progress/earlier-diagnosis#apoe
12. https://www.nia.nih.gov/health/alzheimers-disease-genetics-fact-sheet
13. Eichner JE et al. Apolipoprotein E Polymorphism and Cardiovascular Disease: A HuGE Review. Am J Epidemiol. 2002; 155(6):487-495.
14. Villeneuve S et al. The potential applications of Apolipoprotein E in personalized medicine. Front Aging Neurosci. 2014; 6:154.