白介素-18基因启动子多态性与阿尔茨海默病的关联分析

目的 探讨IL-18基因启动子区位点单核苷酸多态性与散发性阿尔茨海默病(SAD)的相关关系.方法 采用病例对照的研究方法,共入选SAD患者109例和同期年龄、性别完全匹配的对照组109例.应用序列特异性引物-聚合酶链反应技术检测两组对象IL-18基囚启动子-607C/A位点单核苷酸多态性.结果 IL-18基囚启动子-607C/A位点等位基因和基因型分布在SAD组和对照组间比较差异有统计学意义(P=0.021,P=0.041).SAD组-607CC基因型分布频率明显高于对照组,比较差异有统计学意义(x2=4.109,P=0.043),携带-607CC基因型的人群患SAD的风险是非携带人群的1.90倍(OR=1.90,95%CI:1.017～3.550).结论 SAD与IL-18基因启动子-607C/A位点单核苷酸多态性相关,其中-607CC基因型的人群发生SAD的风险较其他基因型人群的风险高.

Association between interleukin-18 gene promoter polymorphisms and Alzheimer's disease

Objective To investigate the role of interleukin-18 (IL-18) gene promoter polymorphisms in the susceptibility of sporadic Alzheimer's disease (SAD). Methods A total of 109 patients with SAD and 109 healthy controls matched for age and gender were enrolled in our study with case-control method. Polymerase chain reaction with sequence specific primer was used to detect the single nucleotide polymorphisms (C/A) of gene promoter of IL-18 at position -607. Results Significant differences in the C/A genotype and allele distributions of IL-18 promoter at position -607 were noted between patients with SAD and controls (P=0.041 and P=0.021, respectively). The CC genotype frequency of gene promoter of IL-18 at position -607 in patients with SAD was significantly higher than that in healthy controls (x2=4.109, P=0.043); and the people with this genotype had a 1.90-fold increased risk as compared with the people with other genotypes (OR=1.90, 95%CI: 1.017-3.550).Conclusion The C/A polymorphisms of IL-18 gene promoter at position -607 are correlated with SAD in Han Chinese population. People with -607CC in IL-18 gene promoter have an increased risk of SAD.