SINGLE NUCLEOTIDE POLYMORPHISMS (SNPS) ASSOCIATED TO ALZHEIMER?S DISEASE IN THE ARGENTINE POPULATION

DALMASSO C; MUCHNIK C; ACION L ; KELMANSKY D; OLIVAR N; BRUSCO LI; MORELLI L

Congreso; 51 Annual Meeting SAIB; 2015

Late-Onset Alzheimer?s Disease (LOAD) is the most frequent form of dementia in adults. It is a complex disorder most likely caused by multiple genetic and environmental susceptibility factors. Currently, there are no known treatments to prevent, cure or delay the onset of the disease. Besides, only the allele e4 of apolipoprotein E gene (APOE4) has been irrefutably recognized as a risk factor, however it is absent in approximately 42% of patients with AD. In order to identify new genetic biomarkers, over the last decade, genome-wide association studies have opened up new avenues in detecting susceptibility SNP factors for LOAD. Our main goal is to identify which of these SNPs present high prevalence in the Argentinian population, and to evaluate their use as possible genetic-risk biomarkers. We recruited 267 patients with cognitive impairments, and 175 individuals without obvious clinical dysfunction. Cases and controls were genotyped for 95 SNPs previously associated to LOAD, and 97 biallelic SNPs associated to ancestry. So far, we observed that the studied group is an admixture of European and Native populations that presents the expected incidence of APOE4 between cases and controls. We also validated other SNPs as risk/susceptibility factors. We are still analyzing the results to generate a risk-associated pattern for LOAD that will be tested in a second case-control experiment.