SUMO4基因多态性与2型糖尿病和冠心病的关联研究.pdfVIP

SUMO4基因多态性与2型糖尿病和冠心病的关联研究 蒲连美 首都医科大学附属北京安贞医院 [摘要]目的 探讨北京地区汉族人群小泛素样修饰蛋白4（SUMO4）基因多态性与2型糖尿病(T2DM)、冠状动脉 粥样硬化性心脏病(CAD)及T2DM合并CAD的关系。 方法 采用病例对照设计。入选对象：病例组共3组，包括：单纯2型糖尿病(T2DM)组505人、单纯CAD组369人、 T2DM合并CAD组(T2DM+CAD)189人；健康对照组 （Control）500人。应用聚合酶链反应—高分辨熔解曲线技术(PCR —HRM)结合测序验证法，对SUMO4基因rrs600739、rs237025及rs2370244个单核苷酸多态性(SNPs)进 行基因分型。比较T2DM组与Control组、CAD组与Control组及T2DM+CAD组与T2DM组的等位基因和基因型的分布情况， 通过分层分析比较SNPs不同基因型携带者的临床相关危险因素的差异，并进行单倍型分析。 [关键词] SUMO4基因；多态性；2型糖尿病；冠心病；2型糖尿病合并冠心病 GeneticVariationinSUMO4geneareAssociatedwiththeRiskofType2DiabetesMeilitus andCoronaryArteryDisease [Abstraet]ObjectiveToassesstheroleofsmallubiquitin—likemodifier4(SUMO4)genepolymorphisms(rrs600739, rs237025andrs237024)insusceptibilitytotype2diabetesmellitus(T2DM)andcoronaryarterydisease(CAD)inChineseHanethnic populationinBeijing. MethodsUsingthecase—controlmethod,weselected500T2DM—andCAD—freehealthysubjectsasnormalcontrols(Controlgroup)and enrolled3cases:505patientswithT2DM(T2DMgroup),369patientswithCAD(CADgroup)and189patientswithbothT2DMandCAD (T2DM+CADgroup).The4singlenucleotidepolymorphisms(SNPs)inSUMO4geneweredeterminedusingpolymerasechainreaction—high resolutionmeltingcurve(PCR—HRM)combinedwithgenesequencing.ThenallelicandgenotypicdistributionofeachSNPwascomparedamong differentgroups.AndtheassociationbetweentheSUMO4variantsandclinicalcovariateswereanalyzed.Wealsoperformedahaplotypeanalysis. [Keywords] SUMO4;polymorphisms;type2diabetesmellitus;coronaryarterydisease;Type2diabetesmellituswithcoronaryartery disease