Interleukin-6 receptor gene polymorphisms were associated with sporadic Alzheimer's disease in Chinese Han
Min Wang1, Haiqing Song, Jianping Jia
1Department of Neurology, Xuan Wu Hospital of the Capital Medical University, Beijing 100053, PR China.
Abstract:
Cytokine interleukin-6 (IL-6) is thought to play a role in Alzheimer's disease (AD) pathogenesis. To explore the correlation between IL-6 receptor gene and sporadic AD (SAD), a case-control study was conducted in a North Chinese Han population. The IL-6R promoter and the exon 9 that contains the proteolytic cleavage site of IL-6R were screened, resulting in three polymorphisms: -530G/T (novel), -208G/A (rs4845617), and +48867A/C (Asp358Ala and rs8192284). There were 328 SAD cases (mean age 75.5+/-9.1 years; mean onset age 69.9+/-8.6 years) and 305 control subjects having a similar age and sex composition. APOE epsilon4 was expectedly more common among the cases (17.7% vs 5.6%; chi(2)=44.375; P<0.001); IL-6R -530T and +48867C were over-represented among the cases (13.4% vs 8.2% P=0.003; 41.8% vs 32.8% P=0.001; OR=2.7 95% CI 1.6-4.5; OR=2.1 95% CI 1.4-3.1). Haplotype analysis indicated five common haplotypes TGA (OR=1.8), GAC, GGC, GAA, and GGA (OR=0.7), from highest to lowest risk. None of the associations appeared to be modified by APOE epsilon4. We conclude that the -530T allele located in a putative regulatory region and the +48867C allele at the splice site may elevate the risk of SAD among the Han Chinese.
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
Alzheimer Disease l: Introduction
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Alzheimer Disease ll: Pathophysiology


