神经元型一氧化氮合酶基因多态性与脑梗死的相关性  

Association between polymorphisms of NOS1 gene and cerebral infarction in Chinese Han

作　　者：高鹏[1] 吴江[2] 杜丹华[2] 李蕴博[3] 赵节绪[2] 胡林森[2] 

机构地区：[1]吉林大学第一医院内分泌科,吉林长春130021 [2]吉林大学第一医院神经内科,吉林长春130021 [3]吉林大学第一医院神经外科,吉林长春130021

出　　处：《中风与神经疾病杂志》2010年第4期292-295,共4页Journal of Apoplexy and Nervous Diseases

基　　金：卫生部重点项目(2007);国家自然科学基金青年基金(30800337);吉林省科技厅青年基金(20080161);吉林省卫生厅项目(2008P008)

摘　　要：目的探讨神经元型一氧化氮合酶(NOS1)基因多态性与脑梗死发病的关系。方法以rs9658281和rs2682820位点为遗传标记,采用聚合酶链式反应(PCR)和限制性片断长度多态性(RFLP)技术检测605例脑梗死患者和313例对照组人群的基因型。结果Rs9658281位点G等位基因频率较对照组明显增高(χ2=3.906,P=0.048,OR=1.362,95%CI1.003～1.850),这种差异在女性明显(χ2=6.689,P=0.010,OR=1.913,95%CI1.170～3.167)。Rs9658281位点的GG基因型频率较对照组明显增高(χ2=5.322,P=0.021,OR=1.473,95%CI1.060～2.047),这种差异在女性明显(χ2=9.299,P=0.002,OR=2.315,95%CI1.349～3.972)。经过多因素回归分析调整了传统危险因素的影响后,两组间仍有显著性差异(P=0.023)。Rs2682820位点的基因型频率和等位基因频率在脑梗死组和对照组的分布无显著差异(P>0.05)。结论神经元型一氧化氮合酶(NOS1)基因rs9658281位点多态性与脑梗死的发病可能有关。Objective To investigate the genetic association between the NOS1 gene polymorphism and cerebral infarction.Methods 605 patients with cerebral infarction were recruited into this study,and 313 healthy people were included as controls.SNP rs9658281,a G to A base change located in intron 2 of the gene,and SNP rs2682820,an A to C base change located in intron 16 of the gene were used as genetic markers.PCR-based restriction fragment length polymorphism analysis was applied to genotype rs9658281（MSP I site）and rs2682820（Hae Ⅲ site）.Results The frequencies of allele G was significantly higher in patients than controls（χ2=3.906,P=0.048,OR=1.362,95% CI 1.003～1.850）,especially in female patients than controls（χ2=6.689,P=0.010,OR=1.913,95% CI 1.170～3.167）.The frequencies of GG genotype were significantly higher in patients than controls（χ2=5.322,P=0.021,OR=1.473,95% CI 1.060～2.047）,especially in female patients than controls（χ2=9.299,P=0.002,OR=2.315,95% CI 1.349～3.972）.Multiple factors regressin analysis showed that the difference was still significant after adjusting the traditional risk factors of cerebral infarction.The frequencies of allele and genotype in rs2682820 site showed no significance between patients and controls.Conclusions The present study suggests that the NOS1 gene polymorphism of rs9658281 is likely to contribute to the etiology of cerebral infarction in Chinese Han.

关 键 词：神经元型一氧化氮合酶(NOS1) 单核苷酸多态性 脑梗死 

分 类 号：R743.3[医药卫生—神经病学与精神病学]