DiaPlexC™ Apolipoprotein E (ApoE) Genotyping Kit

Apolipoprotein E (ApoE) consists of three isoforms: E2, E3 and E4. These three isoforms make six genotypes, (homozygous genotypes: E2/E2, E3/E3 E4/E4 and heterozygous genotypes: E2/E3, E2/E4, E3/E4). Isoform E2 is usually known as a protective isoform whereas isoform E4 is generally responsible for diseases. The predominant abnormalities are due to a single nucleotide polymorphism (SNP) of codon 112 (Cys/Arg) and codon 158 (Arg/Cys). The polymorphism has functional effects on the lipoprotein metabolism. ApoE is the primary ligand for two receptors, LDL receptors found in the liver and other tissues and ApoE specific receptors found in the liver. The co-ordinate interaction of these lipoprotein complexes with their receptors forms the basis for the metabolic regulation of cholesterol. ApoE has been found to be associated with elevated cholesterol levels or lipid derangements that lead to various clinical problems like coronary heart diseases, strokes, periphery artery diseases, and diabetes mellitus. In addition to the genotype-phenotype associations with the cardiovascular disease, the alleles and isoforms of ApoE have been related to dementias, most commonly Alzheimer’s disease. Determining the genotype of ApoE is thus considered to be an important test for patients with the disease, as well as a precautionary test for healthy people.