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 epsilon 4 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 epsilon 4. 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. (C) 2010 Elsevier B.V. All rights reserved.
基金：
National Key Technology R&D Program in the Eleventh Five-year Plan Period (2006BAI02B01), the key project of the National Natural Science Foundation of China (30830045),
the National Basic Research 973 Program (2006CB500700), Beijing Natural Science Foundation (7071004),
and the Funding Project for Academic Human Resources Development in Institutions of Higher Learning Under the Jurisdiction of Beijing Municipality.
第一作者机构：[1]Department of Neurology, Xuan Wu Hospital of the Capital Medical University, Beijing 100053, PR China
共同第一作者：
通讯作者：
通讯机构：[1]Department of Neurology, Xuan Wu Hospital of the Capital Medical University, Beijing 100053, PR China
推荐引用方式(GB/T 7714)：
Min Wang,Haiqing Song,Jianping Jia.Interleukin-6 receptor gene polymorphisms were associated with sporadic Alzheimer's disease in Chinese Han[J].BRAIN RESEARCH.2010,1327:44931.doi:10.1016/j.brainres.2010.02.067.
APA：
Min Wang,Haiqing Song&Jianping Jia.(2010).Interleukin-6 receptor gene polymorphisms were associated with sporadic Alzheimer's disease in Chinese Han.BRAIN RESEARCH,1327,
MLA：
Min Wang,et al."Interleukin-6 receptor gene polymorphisms were associated with sporadic Alzheimer's disease in Chinese Han".BRAIN RESEARCH 1327.(2010):44931
