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

Aim Alzheimer'sdisease (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 (A) 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. Methods 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 casecontrol 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=1.06181.7528) 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 4 () (P=0.0070) in stratified analyses, and the 116CC 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.