Yayın: Alzheimer disease associated loci: APOE single nucleotide polymorphisms in Marmara Region
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Tarih
2024-05-01
Kurum Yazarları
Alemdar, Adem
Sağ, Şebnem Özemri
Temel, Şehime Gülsün
Yazarlar
Ismail, Aya Badeea
Dundar, Mehmet Sait
Erguzeloglu, Cemre Ornek
Ergoren, Mahmut Cerkez
Alemdar, Adem
Sag, Sebnem Ozemri
Temel, Sehime Gulsun
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayımcı
MDPİ
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: 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.
Açıklama
Anahtar kelimeler
Apolipoprotein-e, Population, Gene, Alleles, Protein, Onset, Apoe gene, Alzheimer's disease, Variant frequency, Turkish population, Science & technology, Life sciences & biomedicine, Biochemistry & molecular biology, Medicine, research & experimental, Pharmacology & pharmacy, Biochemistry & molecular biology, Research & experimental medicine, Pharmacology & pharmacy