Association Between Interleukin 6 Gene Haplotype and Alzheimer's Disease: A Brazilian Case-Control Study

dc.contributor.authorRasmussen, Lucas [UNIFESP]
dc.contributor.authorDelabio, Roger
dc.contributor.authorHoriguchi, Lie
dc.contributor.authorMizumoto, Igor
dc.contributor.authorTerazaki, Carlos-Renato
dc.contributor.authorMazzotti, Diego [UNIFESP]
dc.contributor.authorBertolucci, Paulo-Henrique [UNIFESP]
dc.contributor.authorPinhel, Marcela-Augusta
dc.contributor.authorSouza, Doroteia
dc.contributor.authorKrieger, Henrique
dc.contributor.authorKawamata, Carlos
dc.contributor.authorMinett, Thais
dc.contributor.authorSmith, Marilia Cardoso [UNIFESP]
dc.contributor.authorPayao, Spencer-Luiz
dc.contributor.institutionFac Med Marilia FAMEMA
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniv Cambridge
dc.description.abstractAlzheimer's disease (AD) is a progressive neurodegenerative disease that takes the form of a local overexpression of cytokines and other inflammatory molecules. We investigated three single-nucleotide polymorphisms (SNP) of the interleukin 6 gene (IL-6) promoter region [-174G/C (rs 1800795), -572C/G (rs 1800796), and -597G/A (rs 1800797)] in 200 patients with late-onset AD and 165 elderly controls in a Brazilian case-control population sample. Genotyping was carried out from blood cells using PCR-RFLP techniques. Statistical analysis was performed to evaluate the Hardy-Weinberg equilibrium and to compare frequencies between groups. No association was found between any IL-6 polymorphism and AD; however the haplotype composed of the -597 A allele and the -174G allele indicated a crude odds ratio (OR) of 0.15 (p = 0.0021) and a significantly adjusted OR (adjusted for the APOE E4 allele value) of 0.15 (p = 0.00294). Linkage disequilibrium was D' =0.68 among the three SNPs. Our findings revealed a protective effect of AG (-597A, -174G) haplotype, which worked independently of the APOE E4 allele in our Brazilian population sample. Thus, the promoter region of IL-6 gene probably exerts an effect through gene linkage and/or gene interaction.en
dc.description.affiliationUSC, São Paulo, Brazil
dc.description.affiliationFac Med Marilia FAMEMA, Hemoctr, São Paulo, Brazil
dc.description.affiliationUniversidade Federal de São Paulo UNIFESP, São Paulo, Brazil
dc.description.affiliationUniv São Paulo, Inst Ciencias Biomed, BR-05508 São Paulo, Brazil
dc.description.affiliationUniv Cambridge, Cambridge, England
dc.description.affiliationUnifespUniversidade Federal de São Paulo UNIFESP, São Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorshipUniversidade do Sagrado Coracao de Bauru
dc.description.sponsorshipFaculdade de Medicina de Marilia (FAMEMA)
dc.description.sponsorshipIDFAPESP: 04/15273-3
dc.description.sponsorshipIDFAPESP: 06/07240-3
dc.description.sponsorshipIDFAPESP: 09/15857-9
dc.identifier.citationJournal of Alzheimers Disease. Amsterdam: Ios Press, v. 36, n. 4, p. 733-738, 2013.
dc.publisherIos Press
dc.relation.ispartofJournal of Alzheimers Disease
dc.rightsAcesso restrito
dc.subjectAssociation studyen
dc.subjectcase-control studyen
dc.subjectinterleukin 6 geneen
dc.titleAssociation Between Interleukin 6 Gene Haplotype and Alzheimer's Disease: A Brazilian Case-Control Studyen