Estrogen Receptor Alpha Polymorphism rs2228480 Increases Alzheimer’s Disease Susceptibility in Women

Authors : Esma Özmen, Taylan Yavuz Bulut, Durmuş Ayan, Etem Erdal Erşan, Musa Sari

Pages : 615-623

Doi:10.18663/tjcl.1821684

View : 73 | Download : 138

Publication Date : 2026-01-01

Article Type : Research Paper

Abstract :Aim: Alzheimer\\\'s disease (AD) is a neurodegenerative disease characterized by beta-amyloid and tau accumulation, leading to memory loss and impairment in daily life. It is more common in women. Considering this difference, the current research explored the hereditary predisposition through examining estradiol (E2) levels and the rs2228480 and rs2295190 polymorphisms in the ESR1 gene in women with AD. Material and Methods: The study included 66 women diagnosed with AD and 62 women without any disease. E2 levels were measured in plasma samples from the participants using the electrochemiluminescence immunoassay (ECLIA) method. Genotyping of the rs2228480 and rs2295190 polymorphisms in ESR1 was performed in DNA samples isolated from whole blood using RT-PCR and TaqMan hydrolysis probes. Results: For the rs2228480 polymorphism, patients with the GA and AA genotypes were found to have an increased risk in women with AD compared to those with the GG genotype (OR = 3.1; 95% CI: 1.33–6.82; p = 0.007). However, no significant difference was found in the genotype distribution of the rs2228480 polymorphism between female AD patients and controls. Furthermore, no difference was observed between the study groups in terms of E2. Conclusion: We believe that there is a significant association between the ESR1 rs2228480 polymorphism and AD; therefore, this polymorphism may play a role in increasing the risk of developing AD. However, comprehensive studies with larger cohorts of women are needed to obtain more definitive data.
Keywords : Kadın, Alzheimer hastalığı, ESR1, E2, Polimorfizm

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