title: Interleukin-6 gene alleles affect the risk of Alzheimer's disease and levels of the cytokine in blood and brain.
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.
authors.affiliation: Department of Experimental Pathology, University of Bologna, Via S. Giacomo 14, 40126 Bologna, Italy. licastro@alma.unibo.it
authors.forename: Federico
authors.initials: F
authors.lastname: Licastro
authors.forename: Luigi Maria Edoardo
authors.initials: LM
authors.lastname: Grimaldi
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Bonafè
authors.forename: Chiappelli
authors.initials: C
authors.lastname: Martina
authors.forename: Fabiola
authors.initials: F
authors.lastname: Olivieri
authors.forename: Luca
authors.initials: L
authors.lastname: Cavallone
authors.forename: Simona
authors.initials: S
authors.lastname: Giovanietti
authors.forename: Eliezer
authors.initials: E
authors.lastname: Masliah
authors.forename: Claudio
authors.initials: C
authors.lastname: Franceschi
mesh_terms: D024509:3' Flanking Region; D000368:Aged; D000375:Aging / Q000235:genetics*; D000544:Alzheimer Disease / Q000097:blood / Q000235:genetics*; D000704:Analysis of Variance; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics; D005260:Female; D005625:Frontal Lobe / Q000503:physiopathology*; D005787:Gene Frequency / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D015850:Interleukin-6 / Q000097:blood / Q000235:genetics*; D007558:Italy; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D008875:Middle Aged; D018598:Minisatellite Repeats / Q000235:genetics; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D012016:Reference Values; D012307:Risk Factors; D012737:Sex Factors
chemical_list: D053327:Apolipoprotein E4; D001057:Apolipoproteins E; D015850:Interleukin-6