CDKN2基因SNP与冠心病发生的关联研究  

The association of SNPs on CDKN2 gene with coronary artery disease

作　　者：袁鹰[1] 曾强[2] 王曙霞[3] 

机构地区：[1]空军航空医学研究所附属医院内二科,北京100089 [2]中国人民解放军总医院国际医学中心 [3]中国人民解放军总医院老年心血管一科

出　　处：《临床心血管病杂志》2013年第1期25-28,共4页Journal of Clinical Cardiology

摘　　要：目的:探讨CDKN2基因邻近的rs10757278、rs10811656和rs1333047这3个位点的变异和冠心病(CAD)发生的关系。方法:选择359例无血缘关系的CAD患者,398例性别、年龄相匹配的健康者作为对照组。利用聚合酶连反应(PCR)扩增其功能区的外显子片段,双脱氧末端终止法测序。家系调查资料包括临床表现、体格检查、心脏超声和心电图。结果:CDKN2基因邻近的rs10757278的GG基因型、rs10811656的T等位基因和rs1333047的TT基因型与CAD发病风险相关联。GG基因型增加CAD发病风险1.91倍(95%CI:1.35～2.68),T等位基因增加CAD发病风险1.67倍(95%CI:1.26～2.23),TT基因型增加CAD发病风险1.57倍(95%CI:1.15～2.06)。结论:CDKN2基因邻近的3个位点变异和CAD发病风险增加相关联。Objective：To test the relationship of the diversity of polymorphisms of rs10757278,rs10811656 and rs1333049 with CAD. Method：A total of 359 consecutive CAD patients was recruited in CAD group,and 398 healthy cases in control group.The DNA was extracted from peripheral blood leukocytes.PCR was performed to analyze the exons and flan king introns of the MIA gene and MIB gene,at the same time,the products were sequenced.The clinical data including symptom,physical examination echocardiography and electrocardiography were collected. Result：The genotype GG of rs10757278 conferred increasing risk for CAD（95%CI 1.35-2.68）.Allele T of rs10811656 conferred increasing risk for CAD（95%CI 1.26-2.23）.The genotype TT of rs1333047 conferred increasing risk for CAD（95%CI 1.15-2.06）. Conclusion：The variations of three locus of the CDKN2 gene is correlated with the increasing risk for CAD independently.

关 键 词：冠心病 单核苷酸多态性 CDKN2基因 

分 类 号：R541.4[医药卫生—心血管疾病]