Association Between Alzheimer Disease and APOE Gene Polymorphisms in Turkish Population

Year 2020, Volume: 42 Issue: 2, 222 - 230, 17.03.2020

Oğuz Çilingir , Belgin Demet Özbabalık Adapınar Beyhan Durak Aras Ebru Erzurumluoğlu Gökalp , Serhat Özkan , Serap Arslan , Konül Hazıyeva Sinem Kocagil Muzaffer Bilgin Sevilhan Artan

https://doi.org/10.20515/otd.553900

Cited By: 1

Abstract

Alzheimer’s
disease (AD) is a progressive neurodegenerative disease and the most common
form of the dementia which is characterized by the accumulation of amyloid
plaques at the extracellular compartment and formation of neurofibriller
tangles at the intracellular compartment which results in the degeneration of
the neuron bodies and synapses. APOE gene polymorphisms in late-onset AD
have a significant effect on cellular levels and also have been associated with
neuropathological conditions. To determine the effect of APOE
gene polymorphisms on Alzheimer's patients, we have included 629 AD patients
between 45-90 years and 200 healthy subjects into the study. APOE
gene isoforms were determined by real-time PCR method. APOE
genotype distributions were significantly different between the patient and
control groups (p <0.001). There was a statistically significant difference
in allele frequencies between patient and control groups (p <0.001). At
ε4 allele
carriers there was a 5.49 times higher risk of AD than the subjects that lack
the ε4 allele (OR= 5.49, %95 CI: 3.86-7.81,  p<0.001). The MMSE (Mini-Mental State
Examination) score was lower among APOE ε4-carriers
when compared to the non-carriers
(p<0.001). On the basis of all these data it can be concluded
that the APOE ε4 allele increases the
risk of development of AD. Our results confirmed that the APOE genotype is a risk factor for AD. However, considering the
importance of the geographic location and ethnicity, it is a fact that larger
molecular studies are needed to clearly determine the contribution of the APOE gene to the development of AD.

Keywords

Alzheimer Diseas, APOE, polymorphism

Türk Popülasyonunda APOE Polimorfizmleri ve Alzheimer Hastalığı Arasındaki İlişki

Abstract

Alzheimer Hastalığı (AH), demansın en yaygın nedeni olan,
sinaps ve nöronların kaybının yanı sıra hücre dışı amyloid plakların ve hücre içi nörofibriler yapıların
patolojik oluşumları ile karakterize, en sık görülen progresif nörodejeneratif bir
hastalıktır. Geç başlangıçlı AH’da Apolipoprotein E (APOE) gen polimorfizmleri hücresel seviyelerde önemli bir etkiye sahip olmakla
beraber aynı zamanda nöropatolojik koşullarla da ilişkilendirilmiştir. APOE gen polimorfizmlerinin AH' ları üzerinde etkisini
saptamak amacıyla yaptığımız çalışmamıza 45-90 yaş arasında olan 629 hasta ve
200 sağlıklı
birey dahil edilmiştir.
APOE geni izoformları gerçek zamanlı polimeraz zincir reaksiyonu (GZ-PZR)
yöntemi ile incelenmiştir. Hasta ve kontrol grupları arasında hem APOE genotip dağılımları (p<0.001)
hemde allel frekansları (p<0.001) açısından istatistiksel olarak anlamlı
farklar tespit edilmiştir. APOE ε4 allel taşıyıcısı olan bireylerde ε4 alleli taşımayan bireylere göre AH riskinin 5.49 kat fazla olduğu sonucuna
ulaşılmıştır (OR= 5.49, %95 CI: 3.86-7.81, 
p<0.001). MMSE (Mini-Mental Durum Muayenesi) skorunun; ε4 alleli taşıyıcılarında, taşıyıcı olmayanlara göre daha düşük olduğu
tespit edilmiştir (p<0.001). Bütün bu verilere dayanarak APOE 𝜀4 allelinin AH’nın gelişim riskini arttırdığı
sonucuna varılabilir. Sonuçlarımız APOE genotipinin AH için bir risk faktörü
olduğunu doğrulamıştır. APOE'nin AH
gelişimine katkısını net olarak saptayabilmek için,  coğrafi konumun ve etnik kökenin önemi de dikkate
alınarak, daha geniş çaplı moleküler çalışmalara ihtiyaç olduğu bir gerçektir.

Keywords

: Alzheimer Hastalığı, APOE, polimorfizm, ε4 allel

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