Atıf İçin Kopyala
Ismail A. B., Dundar M. S., Erguzeloglu C. O., Ergoren M. C., Alemdar A., Ozemri Sag S., ...Daha Fazla
BIOMEDICINES, cilt.12, sa.5, ss.948-958, 2024 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
12
Sayı:
5
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Basım Tarihi:
2024
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Doi Numarası:
10.3390/biomedicines12050968
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Dergi Adı:
BIOMEDICINES
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, Directory of Open Access Journals
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Sayfa Sayıları:
ss.948-958
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Erzincan Binali Yıldırım Üniversitesi Adresli:
Hayır
Özet
Alzheimer’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: ε4 at 9.94%, ε2 at 9.18%, and ε3 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 ε3/ε3, 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.