INVESTIGATION OF THE RELATIONSHIP BETWEEN PARKINSON'S DISEASE AND TIRAP GENE POLYMORPHISM

Year 2024, Volume: 31 Issue: 1, 103 - 109, 18.03.2024

Merve Kır Kayan , Nilüfer Şahin Calapoğlu

https://doi.org/10.17343/sdutfd.1360587

Abstract

Objective
Parkinson's disease (PD) is a progressive disease
characterized by the loss of dopamine-producing cells
in the brain. A protein called α-synuclein accumulates
in the brain tissue of patients with PD and causes
neuroinflammation. Neuroinflammation involves the
activation of immune system cells in the brain and
the release of inflammation-related molecules. The
Toll Like Receptors (TLRs) involved in this process
recognize pathogens and damaged cells and initiate
the immune response. In this study, we aimed to
investigate the association of the polymorphic allele on the Toll/IL-1 receptor-associated protein (TIRAP) gene
region, an adaptor protein involved in the TLR signaling
pathway, in patients with PD and in the control group.
Material and Method
39 PD patients and 40 healthy individuals participated
in the study. Blood samples were taken from the
participants and DNA isolation was performed. TIRAP
rs8177374 (975C/T) polymorphism was determined by
PCR and RFLP methods.
Results
T allele frequency was found to be 0.218 in PD patients
and 0.200 in the control group. C allele frequency and
CC genotype frequency were found to be high in both
groups. F value was found to be 0,128 in PD patients
and 0,250 in the control group. OR value was 1.115;
CI value was [0,517-2,402]. Total OR=1,508; P=0,758.
Conclusion
No statistically significant association was found
between TIRAP polymorphism and PD. It was
concluded that TIRAP polymorphism is not a risk factor
in PD patients.

Keywords

Toll Like Receptor, Neuroinflammation, TIRAP, Parkinson

Project Number

4777-YL1-16

PARKİNSON HASTALIĞI İLE TIRAP GEN POLİMORFİZMİ ARASINDAKİ İLİŞKİNİN ARAŞTIRILMASI

Abstract

Amaç
Parkinson hastalığı (PH), beyinde dopamin üreten
hücrelerin kaybıyla ilerleyen bir hastalıktır. PH’li hastaların
beyin dokularında α-sinüklein adlı bir protein
birikir ve nöroinflamasyona neden olur. Nöroinflamasyon,
beyindeki bağışıklık sistemi hücrelerinin aktivasyonu
ve iltihaplanma ile ilgili moleküllerin salınımını
içerir. Bu süreçte rol oynayan Toll Like Reseptör
(TLR)’ler patojenleri ve hasarlı hücreleri tanıyarak
bağışıklık yanıtını başlatır. Bu çalışmada, TLR sinyal
yolağında yer alan bir adaptör protein olan Toll/IL-1
reseptör ilişkili protein (TIRAP) gen bölgesi üzerindeki
polimorfik allelin PH’li hastalarda ve kontrol grubunda
karşılaştırmalı olarak ilişkisini araştırmayı amaçladık.
Gereç ve Yöntem
Çalışmaya 39 PH hastası ve 40 sağlıklı kişi katıldı.
Katılımcılardan kan örnekleri alınarak DNA izolasyonu
yapıldı. TIRAP rs8177374 (975C/T) polimorfizmi
PCR ve RFLP yöntemleri ile belirlendi.
Bulgular
T allel frekansı PH hastalarında 0,218; kontrol grubunda
ise 0,200 olarak bulundu. C allel frekansı ve
CC genotip frekansı her iki grupta da yüksek bulundu.
F değeri PH hastalarında 0,128; kontrol grubunda
ise 0,250 olarak bulundu. OR değeri 1,115; CI değeri
ise [0,517-2,402] olarak bulundu. Total OR=1,508;
P=0,758 olarak bulundu.
Sonuç
TIRAP polimorfizmi ile PH arasında istatistiksel olarak
anlamlı bir ilişki bulunmadı. TIRAP polimorfizminin PH
hastalarında risk faktörü olmadığı sonucuna varıldı.

Keywords

Parkinson Hastalığı, Toll Like Reseptör, Nöroinflamasyon, TIRAP

Ethical Statement

Süleyman Demirel Üniversitesi Tıp Fakültesi Klinik Araştırmalar Etik Kurulu Başkanlığı’ndan 15.07.2015 tarihli ve 166 sayılı kararı ile etik kurul izni alınarak gerçekleştirildi. Çalışma Helsinki Deklarasyonuna uygun olarak yürütülmüştür.

Supporting Institution

Süleyman Demirel Üniversitesi Bilimsel Araştırma Projeleri Koordinasyon Birimi

Project Number

4777-YL1-16

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