ABSTRACT Recent studies have provided evidence that a functional single-nucleotide polymorphism (SNP) at the codon 405 (isoleucine to valine I405V; SNP rs5882) of exon 14 of cholesteryl ester transfer protein gene (CETP) is associated with lower risk of incident dementia. To analyze a possible implication for CETP I405V polymorphism as a genetic factor for dementia and possible effects on memory tasks, whether or not such effects are dependent on the Apolipoprotein E (ApoE) ε4 allele, we replicated this association study on our dataset. The study group consisted of 282 Italian subjects: 121 patients self-referred to the Department of Neurology, University of Florence, for everyday memory deficits, and a group of 161 non-symptomatic subjects. We performed the analysis of the CETP I405V polymorphism by using the high resolution melting analysis (HRMA). All patients went through an extensive neuropsychological battery consisting of global measurements and tasks exploring short- and long-term memory. The study protocol was approved by the local ethics committee and informed consent for genetic screening was obtained from study participants, or, where appropriate, a relative or legal representative. We found a significant different distribution of the CETP genetic variant polymorphism in the total group of patients with respect to controls. Analyzing the correlation with neuropsychological performance we found that VV carriers showed a higher score on MMSE and on a long term memory test. These reports suggest that CETP I405V can be correlated with memory and memory related disease. Larger studies are needed to confirm this recent hypothesis.
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