Association between Polymorphisms of the AKT1 Gene Promoter and Risk of the Alzheimer's Disease in a Chinese Han Population with Type 2 Diabetes
Association between Polymorphisms of the AKT1 Gene Promoter and Risk of the Alzheimer's Disease in a Chinese Han Population with Type 2 Diabetes
复制标题
DOI：
10.1111/cns.12430
复制
发表时间：
2015-08-01
影响因子：
5.5
通讯作者：
Li, Ke-Shen
中科院分区：
文献类型：
--
作者：
Liu, Sheng-Yuan;Zhao, He-Dan;Li, Ke-Shen
目的阿尔茨海默病（Alzheimer's disease，AD）是一种与2型糖尿病（type 2 diabetes，T2 D）密切相关的多因素疾病，其中v-akt鼠胸腺瘤病毒癌基因同源物1（AKT 1）在蛋白质合成途径和细胞凋亡过程中起重要作用。有证据表明，AKT 1蛋白可能与T2 D患者的AD风险有关。本研究旨在探讨AKT 1基因启动子区单核苷酸多态性与2型糖尿病患者AD发病风险的关系。方法采用病例对照研究方法，对112例2型糖尿病患者、231例AD患者和231例健康对照者共574例进行AKT 1基因多态性与2型糖尿病患者AD发病风险的相关性研究。采用简易精神状态检查量表（MMSE）评定所有受试者的认知功能。6个单核苷酸多态性，次要等位基因频率>0.2采用聚合酶链反应（PCR）分析AKT 1启动子中的rs 2498786、rs74090038、rs 2494750、rs 2494751、rs 5811155和rs 2494752），并采用酶联免疫吸附试验（ELISA）检测血清中AKT 1蛋白的浓度。AKT 1基因rs 2498786多态性与正常对照组比较差异有统计学意义。AD合并T2 D组和AD对照组中AKT 1 rs 2498786多态性CC频率明显高于健康对照组（PAD+ T2 D vs.健康
AimsAlzheimer's disease (AD) is a multifactor disease that has been reported to have a close association with type 2 diabetes (T2D) where the v-akt murine thymoma viral oncogene homolog 1 (AKT1) plays an important role in the protein synthesis pathways and cell apoptosis processes. Evidence has been shown that AKT1 protein may be related to AD risk among patients with T2D. The aim of this study was to analyze the potential association between single nucleotide polymorphisms of AKT1 promoter and the risk of AD among patients with T2D.MethodsThe association between AKT1 polymorphisms and AD risk in patients with T2D was assessed among 574 consecutive unrelated subjects including 112 AD patients with T2D, 231 patients with AD, and 231 healthy controls in a case-control study. The cognitive function of all subjects was assessed using MMSE. Six single nucleotide polymorphisms with minor allele frequency >0.2 (rs2498786, rs74090038, rs2494750, rs2494751, rs5811155, and rs2494752) in AKT1 promoter were analyzed by polymerase chain reaction (PCR), and the concentration of AKT1 protein in serum was tested using enzyme-linked immunosorbent assay (ELISA).ResultsOverall, there was statistically significant difference in AKT1 rs2498786 polymorphism. The CC frequency of AKT1 rs2498786 polymorphism in AD with T2D group and AD control group was significantly higher than that in healthy control group (PAD+T2D vs. health