APOE gene alleles e2, e3 and e4 analysis

Analysis of haplotypesów e2, e3 and e4 of the APOE gene - assessment of predisposition to Alzheimer's disease and type III hyperlipoproteinemia and arteriosclerosis

Clinical relevance

Apo E is synthesized mainlyów in the liver, and is found in chylomicronów and VLDL remnants, enabling their removal from the circulation. The polymorphism of the APOE gene is responsible for the existence of three isoforms of this apolipoprotein: E2, E3, E4, whichóre encoded by three alleles e2, e3, e4. Due to the different affinities of the individual isoforms for the lipoprotein receptor, this polymorphism affects the plasma lipid profile. The functions of apo E go beyond its involvement in the regulation of lipidów metabolism. It is believed that apo E is involved in modulating the inflammatory response, regulating platelet function, apoptosis and oxidative stress phenomena. Carriers of the APOE e4 allele have an increased risk of developing Alzheimer's disease in a gene dosage (allele copy number) dependent manner. Alzheimer's disease develops earlier in homozygotes of the allele than in heterozygotes. The APOE e4 allele also increases rós risk of stroke associated with hypertension, diabetes, smoking and alcohol abuse. Lipidów particles containing the apoE4 isoform in their composition effectively bind to low-density lipoprotein (LDL) receptors in the liver, with the result that receptorów expression decreases and plasma lipoprotein concentrations increase. When lipoprotein particles include the apoE2 isoform, they weakly bind to LDL receptorsów, receptor activityów increases, and plasma LDL concentration decreases. ApoE e2 is also associated with hyperlipoproteinemia/hyperlipidemia type III, a rare inherited disorder that causes the formation of gelatinous fatty deposits on the skin, known as gobies, elevated triglycerideós levels in the blood, and atherosclerosis that develops at an early age. The body of a patient with the e2/e2 combination may be slower to remove fats taken in with food, and therefore the combination means an increased risk of early onset cardiovascular disease, while patientsów with the e4/e4 genotype may have an increased risk of developing atherosclerosis.

Patient Preparation

Material: Blood EDTA