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首页> 外文期刊>CNS neuroscience & therapeutics. >Polymorphism ?116 C / G of Human X ‐box‐Binding Protein 1 Promoter is Associated with Risk of A lzheimer's Disease
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Polymorphism ?116 C / G of Human X ‐box‐Binding Protein 1 Promoter is Associated with Risk of A lzheimer's Disease

机译：人类X-盒结合蛋白1启动子的多态性？116 C / G与阿兹海默氏病的风险有关

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Summary Aim A lzheimer's disease ( AD ) is a multifactor disease that has been reported to have a close association with endoplasmic reticulum ( ER ) stress response. In the response, the regulator factor human X ‐box‐binding protein 1 ( XBP 1) has been shown to facilitate the refolding and degradation of misfolded proteins, prevent neurotoxicity of amyloid‐beta ( A β) and tau, and play an important role in the survival of neurons. The aim in the study was to analyze the potential association between the ?116 C / G polymorphism of XBP1 and the risk of AD . Methods The association between ?116 C / G polymorphism of XBP1 promoter and possible risk of AD was assessed among 276 patients with AD and 254 matched healthy individuals in a case–control study. Results Overall, there was a significantly statistical difference in genotype ( P = 0.0354) and allele frequencies ( P = 0.0150, OR = 1.3642, 95% CI = 1.0618–1.7528) between the AD subjects and control subjects, showing that the ?116 C / G polymorphism of XBP1 might lead to increased susceptibility for AD in a C hinese H an population. In addition, the ?116 CG and ?116 GG genotypes were significantly associated with increased AD risk in female ( P = 0.0217) and in subjects with APOE ?4 (?) ( P = 0.0070) in stratified analyses, and the ?116 CC genotype was significantly associated with fast cognitive deterioration in the AD patients ( P = 0.0270). Conclusion The study supports a role for the ?116C/G polymorphism of XBP1 gene in the pathogenesis of AD , and further studies with a larger sample size and detailed data should be performed in other populations.
机译：概述目的阿兹海默氏病（AD）是一种多因素疾病，据报道与内质网（ER）应激反应密切相关。在响应中，调节因子人X盒结合蛋白1（XBP 1）已显示出有助于错误折叠的蛋白重新折叠和降解，防止淀粉样β（Aβ）和tau的神经毒性，并起重要作用在神经元的生存中。本研究的目的是分析XBP1的？116 C / G多态性与AD风险的潜在关系。方法在一项病例对照研究中，评估了276例AD患者和254例匹配的健康个体中XBP1启动子的？116 C / G多态性与AD可能患病风险之间的关系。结果总的来说，AD受试者和对照组之间的基因型（P = 0.0354）和等位基因频率（P = 0.0150，OR = 1.3642，95％CI = 1.0618–1.7528）存在显着统计学差异，表明？116 C XBP1的/ G多态性可能导致中国汉族人群对AD的敏感性增加。此外，在分层分析中，α116CG和β116GG基因型与女性（P = 0.0217）和APOEα4（α）（P = 0.0070）的受试者的AD风险显着相关，而β116CC基因型与AD患者的快速认知能力下降显着相关（P = 0.0270）。结论该研究支持XBP1基因的？116C / G多态性在AD的发病机制中的作用，应在其他人群中进行更大样本量和详细数据的进一步研究。

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