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Interleukin-6 gene alleles affect the risk of Alzheimer's disease and levels of the cytokine in blood and brain
Authors:Licastro Federico  Grimaldi Luigi Maria Edoardo  Bonafè Massimiliano  Martina Chiappelli  Olivieri Fabiola  Cavallone Luca  Giovanietti Simona  Masliah Eliezer  Franceschi Claudio
Institution:Department of Experimental Pathology, University of Bologna, Via S. Giacomo 14, 40126 Bologna, Italy. licastro@alma.unibo.it
Abstract:Two different polymorphic regions of the interleukin-6 (IL-6) gene were investigated in patients with Alzheimer's disease (AD) and non-demented controls. The -174 C allele in the promoter region of IL-6 gene was over-represented in AD patients compared to controls and significantly increased the risk of AD. Moreover, the -174 CC genotype was associated with a high risk of the disease in women. The D allele of a variable number of tandem repeat (VNTR) was in strong linkage disequilibrium with the -174 C allele and slightly increased AD risk. On the other hand, the frequency of the VNTR C allele was decreased in patients with AD and was negatively associated with the risk of developing AD. Both the -174 CC and VNTR DD genotypes were also associated with increased IL-6 levels in the blood and brain from AD. These findings suggest that IL-6 may play a multifaceted role in AD by affecting the turnover of the cytokine.
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