Polymorphism −116C/G of Human X-box-Binding Protein 1 Promoter is Associated with Risk of Alzheimer's Disease

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Alzheimer'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 (XBP1) has been shown to facilitate the refolding and degradation of misfolded proteins, prevent neurotoxicity of amyloid-beta (Aβ) 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 −116C/G polymorphism of XBP1 and the risk of AD.


The association between −116C/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.


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 −116C/G polymorphism of XBP1 might lead to increased susceptibility for AD in a Chinese Han population. In addition, the −116CG and −116GG genotypes were significantly associated with increased AD risk in female (P = 0.0217) and in subjects with APOE ε4 (−) (P = 0.0070) in stratified analyses, and the −116CC genotype was significantly associated with fast cognitive deterioration in the AD patients (P = 0.0270).


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.

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