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土耳其队列中簇集蛋白与载脂蛋白E多态性和晚发性阿尔茨海默病之间的关联

The Association Between Clusterin and APOE Polymorphisms and Late-Onset Alzheimer Disease in a Turkish Cohort.

作者信息

Alaylıoğlu Merve, Gezen-Ak Duygu, Dursun Erdinç, Bilgiç Başar, Hanağası Haşmet, Ertan Turan, Gürvit Hakan, Emre Murat, Eker Engin, Uysal Ömer, Yılmazer Selma

机构信息

Department of Medical Biology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey.

Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

出版信息

J Geriatr Psychiatry Neurol. 2016 Jul;29(4):221-6. doi: 10.1177/0891988716640373. Epub 2016 Apr 12.

Abstract

Previous studies have demonstrated that clusterin (CLU), which is also known as apolipoprotein J, is involved in the pathogenesis of Alzheimer disease (AD). In this study, we investigated the association between rs2279590, rs11136000, and rs9331888 single-nucleotide polymorphisms (SNPs) in CLU and apolipoprotein E (APOE) genotypes in a cohort of Turkish patients with late-onset AD (LOAD). There were 183 patients with LOAD and 154 healthy controls included in the study. The CLU and APOE polymorphisms were genotyped using the LightSNiP assay. The "GG" genotype of rs9331888 was significantly more frequent in patients with LOAD. The "CC" genotype of the SNP was significantly more frequent in controls. The rs9331888 "GG" genotype in patients and the "CC" genotype in controls were significantly higher in non-∊4 allele carriers of APOE The haplotype analysis showed the CLU "GCG" haplotype was a risk haplotype. Our findings indicate the rs9331888 SNP of CLU is associated with LOAD independent of APOE.

摘要

先前的研究表明,簇集素(CLU),也被称为载脂蛋白J,参与了阿尔茨海默病(AD)的发病机制。在本研究中,我们调查了土耳其晚发性AD(LOAD)患者队列中CLU基因的rs2279590、rs11136000和rs9331888单核苷酸多态性(SNP)与载脂蛋白E(APOE)基因型之间的关联。该研究纳入了183例LOAD患者和154例健康对照。使用LightSNiP分析法对CLU和APOE多态性进行基因分型。rs9331888的“GG”基因型在LOAD患者中显著更常见。该SNP的“CC”基因型在对照中显著更常见。在APOE的非ε4等位基因携带者中,患者的rs9331888“GG”基因型和对照的“CC”基因型显著更高。单倍型分析显示CLU的“GCG”单倍型是一种风险单倍型。我们的研究结果表明,CLU的rs9331888 SNP与LOAD相关,且独立于APOE。

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