gb GENETIC APOE

• kit requires manual preparation of reagents and samples, which are then analysed with the use of real-time PCR instrument
• intended for testing in Caucasian population
• intended for laboratory professional use by trained healthcare professionals
• detection of 112R and 158C polymorphisms serves as an aid to diagnosis of patients with suspected pathological state in cholesterol transport and degenerative conditions such Atherosclerosis and Alzheimer’s disease

Clinical implications

Apolipoprotein E is an important structural component of particles transporting cholesterol (VLDL, HDL) and is a ligand of cell receptors found mainly in the brain and the liver. The apolipoprotein E gene occurs in three forms of alleles, e2, e3 and e4, which code for protein isoforms E2, E3 and E4 respectively. These isoforms characteristically have amino-acids at positions 112 and 158. Isoform E3, coded by the e3 allele, is predominantly present in the population (wild-type), and carries cysteine and arginine amino-acids at positions 112 and 158 respectively. There are three homozygous (e2/e2, e3/e3 and e4/e4) and three heterozygous (e2/e3, e3/e4, e2/e4) genotypes present in the population. The e2 allele is associated with the occurrence of type III hyperlipoproteinemia. Isoform E2, coded by this allele, has significantly lower affinition to lipoprotein receptors, compared to isoforms E3 and E4. Individuals carrying this isoform suffer from higher level of triacylglycerols in their plasma. The E4 allele increases LDL cholesterol level and thus is a risk factor of atherosclerosis. In its homozygous form this allele is also connected with the development of the idiopathic form of Alzheimer’s disease. E2 allele is related to a lower risk of occurrence of this disease.