title: Interleukin-6 receptor gene polymorphisms were associated with sporadic Alzheimer's disease in Chinese Han.
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.
authors.affiliation: Department of Neurology, Xuan Wu Hospital of the Capital Medical University, Beijing 100053, PR China.
authors.forename: Min
authors.initials: M
authors.lastname: Wang
authors.forename: Haiqing
authors.initials: H
authors.lastname: Song
authors.forename: Jianping
authors.initials: J
authors.lastname: Jia
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D053327:Apolipoprotein E4 / Q000235:genetics; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D016001:Confidence Intervals; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study / Q000379:methods; D005838:Genotype; D006801:Humans; D016015:Logistic Models; D008297:Male; D016017:Odds Ratio; D011110:Polymorphism, Genetic / Q000235:genetics*; D019947:Receptors, Interleukin-6 / Q000235:genetics*
chemical_list: D053327:Apolipoprotein E4; D019947:Receptors, Interleukin-6