Association between Polymorphisms of the i AKT 1/i Gene Promoter and Risk of the Alzheimer's Disease in a Chinese Han Population with Type 2 Diabetes

摘要

Summary Aims Alzheimer'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 ( AKT 1) plays an important role in the protein synthesis pathways and cell apoptosis processes. Evidence has been shown that AKT 1 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 AKT 1 promoter and the risk of AD among patients with T2D. Methods The association between AKT 1 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 AKT 1 promoter were analyzed by polymerase chain reaction ( PCR ), and the concentration of AKT 1 protein in serum was tested using enzyme‐linked immunosorbent assay ( ELISA ). Results Overall, there was statistically significant difference in AKT 1 rs2498786 polymorphism. The CC frequency of AKT 1 rs2498786 polymorphism in AD with T2D group and AD control group was significantly higher than that in healthy control group ( P AD+T2D vs. health AD vs. health AD+T2D vs. health AD vs. health = 0.0003) decreased significantly. Among genotypes of AKT 1 rs2498786 polymorphism, the AKT 1 protein level in GG genotype was significantly higher than that in GC genotype ( P GG vs. GC GG vs. CC Conclusion The study suggests that AKT 1 rs2498786 polymorphism in insulin signaling pathway may be associated with AD risk and different genotypes may affects levels of protein expression. However, the polymorphism is not shown to be exclusive in AD patients with T2D.