【作者】 于楠楠；

【导师】 谭兰；

【作者基本信息】 青岛大学 ， 神经病学， 2010， 硕士

【摘要】 目的探讨神经肽Y (NPY)基因启动子多态性与缺血性脑卒中的相关性。方法采用聚合酶链反应(PCR)及基因测序技术,检测450例确诊的缺血性脑卒中患者及423例性别、年龄与之相匹配的正常对照者的NPY基因启动子-399T/C和-883TGins/del两个功能性多态位点的等位基因型、基因型和单倍体型多态性的分布特征情况,Logistic回归分析去除混杂因素影响,以探讨NPY基因启动子基因多态性与缺血性脑卒中的关系。结果病例组NPY基因启动子-399CC基因型(OR：1.699,95%CI：1.124-2.567,P=0.C11)和-399C等位基因(OR：1.254，95%CI：1.G31-1.524,P=0.023)频率均较正常对照组高,特别是在小动脉闭塞性卒中(SVD)类型中。多因素Logistic回归分析后该结论仍然成立。研究分析发现-883ins/-399C单体型可致罹患缺血性脑卒中的风险增加(P=0.008)。结论NPY基因启动子-399T/C多态性可能与缺血性脑卒中的发病存在相关,具有-399C等位基因的个体发生缺血性脑卒中的风险可能显著增加。NPY可能在缺血性脑卒中的发病病程中起重要作用。更多还原

【Abstract】 Objective:To define whether there is a relationship between neuropeptide Y (NPY) gene polymorphism and ischemic stroke in a Chinese Han population.Methods:We investigated 450 ischemic stroke patients and 423 healthy controls matched for sex and age in a Han Chinese population. Two functional polymorphisms (-883TGins/del and -399 T/C) located in NPY gene promoter were genotyped using polymerase chain reaction and DNA sequencing methods. Multivariate logistic regression analysis was used to remove confounding variables.Result:Of 2 NPY polymorphisms investigated in our study, the -399CC genotype (OR: 1.699,95% CI:1.124-2.567, P=0.011) and the -399C allele (OR:1.254,95% CI: 1.031-1.524, P=0.023) were more frequent among ischemic stroke patients than in controls, especially in the small vessel disease (SVD) subtype patients. The similar results were observed in multivariable logistic regression analysis. Haplotype analysis revealed that the -883ins/-399C haplotype was a risk marker for ischemic stroke (P=0.008).Conclusions:The C allele of -399 T/C polymorphism in the promoter regions of NPY is an independent risk factor for ischemic stroke, suggesting that NYP system may involve in the mechanisms of stroke pathology.更多还原