Ismail, Aya BadeeaDundar, Mehmet SaitErguzeloglu, Cemre OrnekErgoren, Mahmut CerkezAlemdar, AdemSag, Sebnem OzemriTemel, Sehime Gulsun2024-06-042024-06-042024-05-01https://doi.org/10.3390/biomedicines12050968https://hdl.handle.net/11452/41695Alzheimer's disease (AD) is a major global health challenge, especially among individuals aged 65 or older. According to population health studies, Turkey has the highest AD prevalence in the Middle East and Europe. To accurately determine the frequencies of common and rare APOE single nucleotide polymorphisms (SNPs) in the Turkish population residing in the Marmara Region, we conducted a retrospective study analyzing APOE variants in 588 individuals referred to the Bursa Uludag University Genetic Diseases Evaluation Center. Molecular genotyping, clinical exome sequencing, bioinformatics analysis, and statistical evaluation were employed to identify APOE polymorphisms and assess their distribution. The study revealed the frequencies of APOE alleles as follows: epsilon 4 at 9.94%, epsilon 2 at 9.18%, and epsilon 3 at 80.68%. The gender-based analysis in our study uncovered a tendency for females to exhibit a higher prevalence of mutant genotypes across various SNPs. The most prevalent haplotype observed was epsilon 3/epsilon 3, while rare APOE SNPs were also identified. These findings align with global observations, underscoring the significance of genetic diversity and gender-specific characteristics in comprehending health disparities and formulating preventive strategies.eninfo:eu-repo/semantics/openAccessApolipoprotein-ePopulationGeneAllelesProteinOnsetApoe geneAlzheimer's diseaseVariant frequencyTurkish populationScience & technologyLife sciences & biomedicineBiochemistry & molecular biologyMedicine, research & experimentalPharmacology & pharmacyBiochemistry & molecular biologyResearch & experimental medicinePharmacology & pharmacyArticle00123217060000112510.3390/biomedicines12050968