Bagnoli Silvia, Cellini Elena, Tedde Andrea, Nacmias Benedetta, Piacentini Silvia, Bessi Valentina, Bracco Laura, Sorbi Sandro
Department of Neurological and Psychiatric Sciences, University of Florence, Viale Pieraccini, 6-50139 Florence, Italy.
Neurosci Lett. 2007 May 18;418(3):262-5. doi: 10.1016/j.neulet.2007.03.030. Epub 2007 Mar 19.
Recent studies have reported a genetic association between single nucleotide polymorphisms (SNPs) in the promoter region of Interleukin (IL) 10 and Alzheimer's disease (AD) with conflicting results. To further investigate the proposed association and to clarify the role of cytokines as a potential cause for AD susceptibility, we analyzed genotypes, allele distributions and haplotypes of IL10 promoter polymorphisms -1082 (rs1800896) and -819 (rs1800871) in an Italian sample of 222 sporadic AD patients and 179 normal controls. All 401 subjects were also genotyped for the Apolipoprotein E (ApoE) polymorphism. We reported a positive association between the -819T/C polymorphism and AD. Moreover, we found a significant difference for this SNP in the ApoE varepsilon4 non-carrier AD patients compared to the ApoE varepsilon4 non-carrier control group. For the -1082A genotype and allele distribution, no significant association was found in AD patients, although it was detected within the AT haplotype. Our results indicate that IL10 polymorphisms may be involved in the risk of developing AD.
近期研究报道了白细胞介素（IL）10启动子区域单核苷酸多态性（SNP）与阿尔茨海默病（AD）之间存在基因关联，但结果相互矛盾。为了进一步研究这种潜在关联，并阐明细胞因子作为AD易感性潜在病因的作用，我们分析了222例散发性AD患者和179例正常对照的意大利样本中IL10启动子多态性-1082（rs1800896）和-819（rs1800871）的基因型、等位基因分布及单倍型。所有401名受试者还进行了载脂蛋白E（ApoE）多态性的基因分型。我们报道了-819T/C多态性与AD之间存在正相关。此外，我们发现，与ApoE ε4非携带者对照组相比，ApoE ε4非携带者AD患者中该SNP存在显著差异。对于-1082A基因型和等位基因分布，在AD患者中未发现显著关联，尽管在AT单倍型中检测到了这种关联。我们的结果表明，IL10多态性可能与AD发病风险有关。
