摘要
目的探讨胰岛素信号转导通路蛋白多态性与阿尔茨海默症（AD）和2型糖尿病（他D）的关系。方法选择AD合并T2D112例，单纯AD231例，健康对照231例，提取检测受试者外周静脉全血样本的DNA，通过PCR法和单核苷酸多态性测序检测PI3K基因多态性，同时利用酶联免疫吸附法（ELISA法）检测血清PI3K的蛋白水平。结果PI3K基因多态性rs3730087在三组中的基因频率分布差异有统计学意义（Х^2=20．99，P=0．0003），其中CC基因型频率在AD合并T2D组中的比例高于健康对照组；不同基因型间PI3K蛋白的表达水平差异有统计学意义（F=27．450，P〈0．0001），CC基因型中PI3K蛋白水平在各组中的表达差异也有统计学意义（F=8．096，P=0．0006）。血浆PI3K蛋白表达水平在三组间的表达水平差异有统计学意义（F=9．034，P=0．0001），其中AD合并T2D组中低于健康对照组和单纯AD组。结论PI3K基因多态位点rs3730087在汉族人群中可能是AD的风险相关因子。
Objective To explore the association between PT3K polymorphisms in insulin signal transduction pathway and Alzheimer＇s disease （AD） risk. Methods There were three groups, including 112 cases for AD ＋ T2D group,231 cases for only AD group, and 231 cases for healthy controls group. The polymorphisms in PI3K gene was sequenced by PCR and the concentration of PI3K in serum was tested by enzyme - linked immunosorbent assay （ELISA） .Results Overall, there was significantly statistical difference in PI3K rs3730087 polymorphism among three groups （Х^2 = 20： 99, P = 0.000 3）. The C C frequency of PI3K rs3730087 polymorphism in AD with T2D group and AD control group was significantly higher than that in the healthy control group. The PI3K protein level of different genotype was statistically significant （F = 27. 450,P 〈 0. 000 1 ）. As for CC genotypes of PI3K rs3730087 poly- morphism, the PI3K protein level was statistically different among these three groups （ F = 8. 096, P = 0. 000 6 ）.Moreover, the PI3 K protein level of the three groups was different （F = 9. 034, P = 0. 000 1 ）, which in both AD group was lower as compared with healthy control group. Conclusion The study suggested that CC genotype of PI3K rs3730087 polymorphism in insulin signaling trausduction pathway might be a risk factor for AD with T2D and it also affects the expression level of PI3K protein. However,the polymorphism is not shown to be exclusive in AD patients with T2D.
出处
《中国基层医药》
CAS
2016年第12期1791-1795,共5页
Chinese Journal of Primary Medicine and Pharmacy
基金
广东省医学科学技术研究基金（A2014661）
广东省深圳市科技计划项目（201302180）
