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

Author(s):Show less -

Rasmussen, Lucas ^{[1, 2]} ; Delabio, Roger ^[3] ; Horiguchi, Lie ^[3] ; Mizumoto, Igor ^[3] ; Terazaki, Carlos-Renato ^[3] ; Mazzotti, Diego ^[1] ; Bertolucci, Paulo-Henrique ^[1] ; Pinhel, Marcela-Augusta ; Souza, Doroteia ; Krieger, Henrique ^[4] ; Kawamata, Carlos ^[4] ; Minett, Thais ^[5] ; Smith, Marilia Cardoso ^[1] ; Payao, Spencer-Luiz ^{[3, 2]}

Affiliation

^[1] Univ Fed Sao Paulo UNIFESP, Sao Paulo - Brazil

^[2] USC, Sao Paulo - Brazil

^[3] Fac Med Marilia FAMEMA, Hemoctr, Sao Paulo - Brazil

^[4] Univ Sao Paulo, Inst Ciencias Biomed, BR-05508 Sao Paulo - Brazil

^[5] Univ Cambridge, Cambridge - England

• Document type: Journal article
• Source: JOURNAL OF ALZHEIMER'S DISEASE; v. 36, n. 4, p. 733-738, 2013.
• Web of Science Citations: 10

Abstract

Alzheimer'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. (AU)

• FAPESP's process: 04/15273-3 - Characterization of ribosomal genes and of apolipoprotein AV and interleukin 6, 8 and 1st (alpha) polymorphisms in patients with Alzheimer's Disease
• Grantee: Spencer Luiz Marques Payão
• Support Opportunities: Regular Research Grants
• FAPESP's process: 09/15857-9 - Ribosomal gene expression of B-amyloid precursor protein, of presenilin and cytokines in brain and blood samples of Alzheimer's disease patients by Real Time PCR technique
• Grantee: Spencer Luiz Marques Payão
• Support Opportunities: Regular Research Grants
• FAPESP's process: 06/07240-3 - Lipids metabolism-related gene polymorphisms, diseases, laboratory exams in a Brazilian elderly cohort from districtal region of São Paulo
• Grantee: Marilia de Arruda Cardoso Smith
• Support Opportunities: Regular Research Grants