NPC1L1基因多态性与冠心病的关系  

Correlation of Niemann-Pick C1-like1 gene polymorphism with coronary artery disease

作　　者：苏秀秀[1] 汤静[1] 李珊珊[1] 徐敏[1] 陈秋静[1] 刘艳[1] 金玮[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院心内科,上海200025

出　　处：《内科理论与实践》2012年第5期356-360,共5页Journal of Internal Medicine Concepts & Practice

基　　金：国家自然科学基金(项目编号:81070177)

摘　　要：目的:在上海地区汉族人群中探讨NPC1L1(Niemann-Pick C1-like1)基因启动子区-762T>C多态和编码区1679C>G多态与冠心病(CAD)的关系。方法:运用实时定量PCR基因分型技术,对经冠状动脉造影证实的361例CAD患者和421例对照者进行基因分型。结果:单位点分析发现,-762T>C多态的基因型分布在2组间有显著性差异(P=0.041),应用Logistic回归分析,在显性模式下,-762T>C多态增加CAD发病风险[比值比(OR)=0.74,95%可信区间(CI):0.56～0.99,P=0.042)]。1679C>G多态的基因型分布在2组间无显著差异,应用Logistic回归分析,在显性模式下,1679C>G多态与CAD发病风险之间亦关系密切(OR=0.81,95%CI:0.61～0.99,P=0.046)。单倍型分析发现,3种单倍型分布在2组间无统计学意义。结论:NPC1L1基因启动子区-762T>C多态可能与上海地区汉族人群的CAD发病相关,携带C等位基因者能显著降低CAD的发生风险。Objective To investigate the correlation between Niemann-Pick Cl-like 1 （NPC1L1） gene promotor region-762T〉C and coding region 1679C〉G polymorphism and coronary artery disease （CAD） in Shanghai Han population. Methods Three hundred and sixty one angiography confirmed CAD patients and 421 controls were enrolled. Genotyping were performed by real-time PCR . Results Single-locus analysis showed that the genotype distribution of -762T〉C polymorphism differed significantly between CAD patients and controls （P=-0.041） . Logistic regression analysis demonstrat- ed that CC/TC significantly decrease the CAD risk [odds ratio （OR）= 0.74, 95% confidence interval （CI） 0.56-0.99, P= 0.042）] in dominant model when compared with TT homozygote. There was no significant difference in genotype distribution of 1679C〉G polymorphism between CAD patients and controls, whereas significant correlation of 1679C〉G polymor- phism with CAD risk was revealed by Logistic regression analysis in dominant model （OR= 0.81,95%CI 0.61-0.99 , P= 0.046）. In haplotype analysis, the frequency of 3 haplotypes showed no significant differences between the two groups. Conclusions Tile -762T〉C polymorphism in promoter region of NPCIL1 gene might be correlated with CAD, the presence of C allele could reduce the risk of CAD.

关 键 词：NPC1L1基因 基因多态性 冠心病 单倍型 变异 

分 类 号：R541.4[医药卫生—心血管疾病]