Influence of APOE and RNF219 on Behavioral and Cognitive Features of Female Patients Affected by Mild Cognitive Impairment or Alzheimer's Disease

The risk for Alzheimer's disease (AD) is associated with the presence of the ε4 allele of Apolipoprotein E ( ) gene and, recently, with a novel genetic variant of the gene. This study aimed at evaluating interactions between -ε4 and /G variants in the modulation of behavioral and cognitive features of two cohorts of patients suffering from mild cognitive impairment (MCI) or AD. We enrolled a total of 173 female MCI or AD patients (83 MCI; 90 AD). Subjects were screened with a comprehensive set of neuropsychological evaluations and genotyped for the and polymorphic variants. Analysis of covariance was performed to assess the main and interaction effects of and genotypes on the cognitive and behavioral scores. The analysis revealed that the simultaneous presence of -ε4 and /G variants results in significant effects on specific neuropsychiatric scores in MCI and AD patients. In MCI patients, and variants worked together to impact the levels of anxiety negatively. Similarly, in AD patients, the variants were found to be associated with increased anxiety levels. Our data indicate a novel synergistic activity and in the modulation of behavioral traits of female MCI and AD patients.