APOE4

How it works?

An important genetic factor for Alzheimer’s disease risk is the APOE gene which encodes the apolipoprotein E gene. APOE has three polymorphic alleles ε2, ε3, and ε4. The combination of these APOE alleles can determine risk for developing Alzheimer’s and the presence of a single ε4 allele is a strong risk factor for Alzheimer’s. The single nucleotide polymorphisms (SNPs) encoded by rs429358 and rs7412 determine APOE alleles.

DNA is extracted from a blood sample and SNP genotyping assays are conducted to amplify and identify APOE alleles. In this assay, qPCR reactions are performed with two probes designed to detect rs429358 and rs7412. Your report will state your APOE genotype and will also include each nucleotide base call for each probe.

References:

  • 1. Liu, C.-C., Kanekiyo, T., Xu, H., & Bu, G. (2013). Apolipoprotein E and Alzheimer disease: risk, Mechanisms and Therapy. Nature Reviews Neurology, 9(2), 106–118. https://doi.org/10.1038/nrneurol.2012.263

  • 2. Kulminski, A. M., Shu, L., Loika, Y., He, L., Nazarian, A., Arbeev, K., Ukraintseva, S., Yashin, A., & Culminskaya, I. (2020). Genetic and regulatory architecture of Alzheimer’s disease in the APOE region. Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, 12(1). https://doi.org/10.1002/dad2.12008