The −491A/T apolipoprotein E promoter polymorphism association with Alzheimer's disease: independent risk and linkage disequilibrium with the known APOE polymorphism

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Introduction Apolipoprotein E (ApoE) is a glycoprotein secreted mainly by hepatocytes. It’s involved in cell proliferation and cholesterol transport. ApoE is occurring primarily in 3 significant variants ε2, ε3 and ε4. It is coded by two genes what means the combination of two polymorphic alleles determines its genotype. ApoE-ε3/ε4 and -ε4/ε4 increase the risk of Alzheimer’s disease (AD) development several times compared to the general population. Early prevention can significantly slow down AD development and shorten its course. Aim The aim of this study was to check the distribution of ApoE gene among population from South Poland and compared results with previous study indicating allelic discrimination among random patients in research group. Material and methods In general we carried out genotyping polimorphism of ApoE. The process consisted of: 1. Colecting blood samples from patients, 2. Isolating DNA, 3. Preparating concentrations of DNA and checking it with spectrophotometer, 4. Allelic discrimination with fluorescent – labelled probes, 5. Genotyping of the ApoE polymorphism using Roche Lightcycler96 device. Study group consisted 830 subjects. 1660 determinations has been conducted. Results After expanding the research group by 81 patients it is shown that amount of carriers ApoE-ε2/ε4, ApoE-ε3/ε4 and ApoE-ε4/ε4 increases. The most numerous genotypes in research group are ApoE-ε2/ε2 and ApoE-ε3/ε3. Conclusions An upward trend in the relative numbers of carriers of genotype associated with a higher risk of developing AD has been noticed with the extension of research. Further research should be performed and the rese


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