Kadınlarda Alzheimer Hastalığına Duyarlılığı Artıran Östrojen Reseptörü Alfa (ERα) Gen Polimorfizmi rs2228480

Year 2025, Volume: 16 Issue: 4, 615 - 623, 01.01.2026

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

https://doi.org/10.18663/tjcl.1821684

Abstract

Amaç: Alzheimer hastalığı (AD), beta-amiloid ve tau birikimi ile hafıza kaybı ve günlük yaşamda bozulmaya yol açan nörodejeneratif bir hastalıktır ve kadınlarda daha sık görülür. Bu farklılık temel alınarak çalışmada, AD’li kadınlarda östrodiol (E2) düzeyleri ve ESR1 genindeki rs2228480 ve rs2295190 polimorfizmleri incelenerek kalıtsal yatkınlık araştırılmıştır.
Gereç ve Yöntemler: Çalışmaya 66 AD tanısı almış ve 62 herhangi bir hastalığı olmayan kadın bireyler dahil edildi. E2 düzeyi katılımcılardan alınan plazma örneklerinde Elektrokemilüminesans immünoassay “ECLIA” yöntemi ile ölçüldü. Tam kandan izole edilen DNA örneklerinde ESR1’deki rs2228480 ve rs2295190 polimorfizmlerinin genotiplendirilmesi RT-PCR cihazı ve TaqMan hidroliz probları kullanılarak gerçekleştirildi.
Bulgular: rs2228480 polimorfizmi için, GA ve AA genotiplerine sahip hastaların, GG genotiplerine kıyasla AD'lı kadınlarda artmış risk gösterdiği bulundu (OR = 3,1; %95 CI: 1,33 – 6,82; p = 0,007). Ancak, AD'lı kadın hastalar ve kontroller arasında rs2228480 polimorfizminin genotip dağılımında anlamlı bir fark bulunmadı. Ayrıca E2 yönünden de çalışma grupları arasında bir fark gözlenmedi.
Sonuç: ESR1 rs2228480 polimorfizmi ile AD arasında anlamlı bir ilişki olduğuna ve bu polimorfizmin AD geliştirme riskini artırmada rol oynayabileceği kanısındayız. Ancak daha kesin veriler elde etmek için daha geniş kadın kohortlarıyla yapılacak kapsamlı çalışmalara ihtiyaç vardır.

Keywords

Kadın , Alzheimer hastalığı , ESR1 , E2 , Polimorfizm

Ethical Statement

Bu çalışma, Niğde Ömer Halisdemir Üniversitesi Klinik Araştırmalar Etik Kurulu tarafından onaylanmıştır (Etik kurul kararı no: 2025/39). Çalışmaya katılmayı kabul eden katılımcılara bilgilendirilmiş onam formu imzalatılmıştır. Tüm insan prosedürleri, 2013 yılında revize edilen 1975 Helsinki Bildirgesi'ne uygun olarak gerçekleştirilmiştir.

Supporting Institution

Bu çalışma Niğde Ömer Halisdemir Üniversitesi Bilimsel Araştırma Proje Fonu tarafından desteklenmiştir (Proje No: SAT 2025/2-BAGEP).

Thanks

Herhangi bir teşekkür beyanı bulunmamaktadır.

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

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

Women , Alzheimer , ESR1 , E2 , Polymorphism

Ethical Statement

This study was approved by the Nigde Ömer Halisdemir University Clinical Research Ethics Committee (Ethics committee decision no: 2025/39). Those who agreed to participate in the study provided a signed informed consent form. All human procedures were followed by the Helsinki Declaration of 1975 as revised in 2013.

Supporting Institution

This study was supported by the Scientific Research Project Fund of Nigde Ömer Halisdemir University (Project No: SAT 2025/2-BAGEP).

Thanks

No acknowledgments to declare.

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