PECAM-1基因rs7503550位点多态性和表达水平与冠心病及2型糖尿病的相关性研究

Relativity Study on rs7503550 Polymorphism and Genes Expression Levels of PECAM-1 in Coronary Artery Disease and Type 2 Diabetes Mellitus

目的观察血小板内皮细胞黏附分子-1(PECAM-1)基因rs7503550位点多态性及表达水平与冠心病(CAD)和2型糖尿病(T2DM)的相关性。方法提取2014年11月~2016年5月就诊于火箭军总医院的122例CAD患者、99例T2DM患者及126例健康对照者外周血白细胞的DNA和RNA,应用荧光标记单碱基延伸及寡核苷酸微阵列芯片杂交技术检测PECAM-1基因rs7503550位点的基因型,应用荧光标记及毛细管电泳技术检测PECAM-1的基因表达水平。结果 CAD组和T2DM组的SNP基因型频率和等位基因频率与健康对照组差异无统计学意义(χ^2=0.004~0.170,均P>0.05)。CAD组(0.726±0.514 vs 0.548±0.379,t=3.109,P=0.002)和T2DM组(0.731±0.559 vs 0.548±0.379,t=2.918,P=0.004)的PECAM-1基因表达水平明显高于健康对照组,差异均有统计学意义。通过对不同基因型间表达水平的比较,结果显示CAD组的AG型和GG型均显著高于正常对照组的AG型(0.690±0.481 vs 0.518±0.365,t=2.118,P=0.037)和GG型(0.768±0.600 vs 0.520±0.286,t=2.015,P=0.049);T2DM组的AG型显著高于正常对照组的AG型(0.802±0.674 vs 0.518±0.365,t=2.716,P=0.008),差异有统计学意义。结论 rs7503550位点多态性与CAD和T2DM的易感性无关,PECAM-1基因表达水平的升高是CAD和T2DM的危险因素,rs7503550的基因型与PECAM-1的基因表达有关。

Objective To investigate the rs7503550 polymorphism and expression levels of platelet endothelia1 cel1 adhesion molecule-1(PECAM-1) gene in coronary artery disease(CAD) and type 2 diabetes mellitus(T2DM) patients.Methods Extracted DNA and RNA samples of peripheral blood white cells from 122 CAD patients,99 T2DM patients and 126 healthy individuals in Nov 2014 to May 2016 from the General Hospital of the PLA Rocket Force.The rs7503550 polymorphism of PECAM-1 gene was analyzed with allele-specific fluorogenic oligonucleotide probes in an assay combining extension and hybridization.The gene expression levels were analyzed with fluorescence labeled and capillary electrophoresis technology.Results The genotype and allele frequencies of the polymorphism of the CAD and T2DM group showed no significant difference compared to the control group(χ^2=0.004~0.170,all P>0.05).The gene expression levels of CAD group(0.726±0.514 vs 0.548±0.379,t=3.109,P=0.002) and T2DM group(0.731±0.559 vs 0.548±0.379,t=2.918,P=0.004) were obviously higher than that of control group,the difference was statistically significant.The gene expression levels of AG and GG genotype were obviously higher in CAD group than that of AG(0.690±0.481 vs 0.518±0.365,t=2.118,P=0.037) and GG(0.768±0.600 vs 0.520±0.286,t=2.015,P=0.049) genotype in control group.Compared with control group,the levels of AG were obviously higher in T2DM group(0.802±0.674 vs 0.518±0.365,t=2.716,P=0.008).All the difference was statistically significant.Conclusion The polymorphism of rs7503550 had no relevance with CAD and T2DM susceptibility.The elevated PECAM-1 gene expression level was a risk factor for CAD and T2DM.The mutations of rs7503550 were associated with expression levels of PECAM-1.