Sanz Juana M, Falzoni Simonetta, Rizzo Roberta, Cipollone Francesco, Zuliani Giovanni, Di Virgilio Francesco
Department of Medical Sciences, Section of Internal Medicine, Gerontology, and Clinical Nutrition, Azienda Ospedaliera-Universitaria "S. Anna", Ferrara, Italy.
Department of Morphology, Surgery and Experimental Medicine, Section of General Pathology, University of Ferrara, Italy.
Exp Gerontol. 2014 Dec;60:117-9. doi: 10.1016/j.exger.2014.10.009. Epub 2014 Oct 16.
Inflammation is a key factor in the onset and progression of Alzheimer's disease (AD). The P2X7 receptor (P2X7R) is increasingly recognized as key pro-inflammatory receptor. A recent study has shown that activation of microglia by amyloid β (Aβ) and associated release of IL-1β, requires P2X7R expression. In this study we assessed by RT-PCR in genomic DNA samples, the frequency of two single-nucleotide polymorphisms (SNP) of P2X7R in AD patients compared to age-matched non demented elderly. Our data show that the 489C>T SNP was significantly less frequent in AD patients than in controls (p=0.01), whereas there was no statistical difference in 1513A>C frequency in either groups. In addition, presence of the 1513C allele and absence of the 489C allele decreased the probability of having AD by about four fold. In conclusion, our data show a strong negative association between the P2X7R 489C>T polymorphism and AD, especially in the presence of the 1513C allele.
炎症是阿尔茨海默病（AD）发病和进展的关键因素。P2X7受体（P2X7R）越来越被认为是关键的促炎受体。最近一项研究表明，淀粉样β蛋白（Aβ）激活小胶质细胞以及相关白细胞介素-1β的释放需要P2X7R的表达。在本研究中，我们通过RT-PCR对基因组DNA样本进行分析，比较了AD患者与年龄匹配的非痴呆老年人中P2X7R两个单核苷酸多态性（SNP）的频率。我们的数据显示，AD患者中489C>T SNP的频率显著低于对照组（p = 0.01），而两组中1513A>C的频率无统计学差异。此外，存在1513C等位基因且不存在489C等位基因会使患AD的概率降低约四倍。总之，我们的数据表明P2X7R 489C>T多态性与AD之间存在强烈的负相关，尤其是在存在1513C等位基因的情况下。
