Alzheimer's disease (AD) is classified as a neurodegenerative disease, impacting on brain integrity and functioning, resulting in a progressive deterioration of cognitive capabilities. Epigenetic changes can be acquired over the life span and mediate environmental effects on gene expression. DNA-methyltransferase 3A (DNMT3A) plays an important role in the development of embryogenesis and the generation of aberrant methylation late-onset AD (LOAD). In this study, the rs1550117 polymorphism of DNMT3A was determined by polymerase chain reaction/restriction fragment length polymorphism and confirmed by sequencing. The results showed that AA genotype carriers had a 2.08-fold risk of developing LOAD in comparison with GG genotype carriers (odds ratio [OR] = 2.08, 95% confidence interval [CI]: 1.03-4.21,P= .038) and had a 2.05-fold risk for LOAD compared with GG+GA genotype carriers (OR = 2.05, 95% CI: 1.03-4.11,P= .038), indicating that the DNMT3A polymorphism supports a major role in the pathogenesis of LOAD and can be used as a stratification marker to predict an individual's susceptibility to LOAD.
Keywords: DNMT3A; late onset Alzheimer’s disease; polymorphism.
© The Author(s) 2015.