Association between selected cholesterol-related gene polymorphisms and Alzheimer’s disease in a Turkish cohort

被引：0
作者：
Gamze Guven
Eren Vurgun
Basar Bilgic
Hasmet Hanagasi
Hakan Gurvit
Ebru Ozer
Ebba Lohmann
Nihan Erginel-Unaltuna
机构：
[1] Istanbul University,Department of Genetics, Aziz Sancar Institute of Experimental Medicine
[2] Okmeydani Training and Research Hospital,Department of Medical Biochemistry
[3] Istanbul University,Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine
[4] University of Tübingen,Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research
[5] DZNE,undefined
[6] German Center for Neurodegenerative Diseases,undefined
来源：
Molecular Biology Reports | 2019年 / 46卷
关键词：
Alzheimer’s disease; Cholesterol metabolism; Polymorphism; Risk;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Numerous genetic evidence has pointed out that variations in cholesterol-related genes may be associated with an Alzheimer’s disease (AD) risk. We aimed to investigate the association between polymorphisms in several cholesterol-related genes [APOA5 (rs662799), APOC1 (rs11568822), APOD (rs1568565), CH25H (rs13500), LDLR (rs5930), SORL1 (rs2282649)] and AD in a cohort of Turkish patients. The study group consisted of 257 AD patients (mean age: 75.9 years ± 10.4) and 414 controls (mean age: 62.2 years ± 13.1). Genotyping was performed by quantitative real-time polymerase chain reaction using hydrolysis probes. Our results showed that the ‘TT’ genotype of CH25H rs13500 polymorphism was significantly more frequent in the AD group (p < 0.001) and individuals carrying the CH25H ‘T’ allele had an increased risk for AD (OR 3.07, 95% CI 2.13–4.44, p = 2.20e−09) independently from age, gender and APOE ε4 allele. Moreover, this risk was excessively increased (OR 14.04, 95% CI 6.99–28.23, p = 9.78e−14) in the presence of APOE ε4 allele. The ‘ins/ins’ genotype of APOC1 rs11568822 was significantly more frequent in the AD group compared to controls (p = 1.95e−08). However, this increased AD risk in ‘ins/ins’ carriers was found to be dependent on their APOE ε4 carrier status. No significant associations were found in allele and genotype distributions of APOA5, APOD, LDLR and SORL1 gene polymorphisms. Our results suggest that the association between APOC1 ‘ins/ins’ genotype and AD risk can be explained by linkage disequilibrium with the APOE locus. CH25H rs13500 polymorphism is associated with an AD risk in the Turkish population and CH25H might have a role in the pathogenesis of AD together with, and independently from APOE.
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页码：1701 / 1707
页数：6
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