摘要
目的探讨急性心肌梗死(AMI)与组织蛋白酶B(CTSB)基因启动区rs1293312 T/C位点单核苷酸多态性(SNP)之间的关系及其相关危险因素。方法采用病例-对照研究方法,选择2021年1月至12月于济宁医学院附属医院心内科住院的201例AMI患者(AMI组)和同期体检中心健康体检者204例(对照组);应用聚合酶链反应-限制性片段长度多态性(PCR-RELP)结合DNA测序后的序列比对进行数据统计;运用Hardy-Weinberg平衡检验后,应用χ^(2)检验进行相关分析;利用多因素Logistic回归对多种危险因素以及该SNP位点与AMI发病进行关联性分析;利用SNPinfo数据库预测该SNP位点所影响的转录因子结合位点。结果两组rs1293312 T/C位点SNP位点分别检测出3种基因型为CC、TC和TT,其基因型分布均符合Hardy-Weinberg平衡(χ^(2)=0.57,1.68;均P>0.05)。CC、TC、TT基因型在AMI组[34(16.92%)、91(45.27%)、76(37.81%)]和对照组[37(18.14%)、89(43.63%)、78(38.23%)]间,以及C、T等位基因在AMI组[159(39.55%)、243(60.45%)]和对照组[163(39.95%)、245(60.05%)]间比较,均差异无统计学意义(χ^(2)=0.15,0.01;均P>0.05)。在5种不同遗传模式下进行Logistic回归分析发现,该SNP位点与AMI发病无关联性(均P>0.05)。结论CTSB基因启动区rs1293312 T/C与AMI发病无关,但提供了CTSB基因启动区多态性的群体遗传学资料。
ObjectiveTo investigate the relationship between acute myocardial infarction(AMI)and single nucleotide polymorphism(SNP)of cathepsin B(CTSB)gene promoter region rs1293312T/C site and the associated risk factors.MethodsA case-control study was performed to collect 201 AMI patients(AMI group)hospitalized in the Department of Cardiology,Affiliated Hospital of Jining Medical University from January 2021 to December 2021,and 204 healthy controls(control group)in the physical examination center.Following DNA sequencing data were analyzed by polymerase chain reaction-restriction fragment length polymorphism(PCR-RELP)technique combined with sequence alignment.Following the Hardy-Weinberg balance test,theχ^(2)test was used for correlation analysis.Logistic regression was utilized to examine the relationship between various risk variables,SNP loci and the incidence of AMI.ResultsThe SNP loci revealed three genotypes,including CC,CT and TT.Hardy-Weinberg equilibrium(χ^(2)=0.57,1.68,allP>0.05)and the genotype distribution were both supported by the data.There were no significant differences(χ^(2)=0.15,0.01,allP>0.05)between the CC,TC,TT genotypes of the AMI group[34(16.92%),91(45.27%),76(37.81%)]and the control group[37(18.14%),89(43.63%),78(38.23%)],as well as the C and T alleles of the AMI group[159(39.55%),243(60.45%)]and control group[163(39.95%),245(60.05%)].Logistic regression analysis in five different genetic models suggested that the SNP loci was not associated with the onset of AMI(allP>0.05).ConclusionThe population genetics of the CTSB gene promoter region polymorphism is provided by the CTSB gene promoter rs1293312 T/C SNP,which is not related to the onset of AMI.
作者
孔倩
白冠男
周瑜
闫波
Kong Qian;Bai Guannan;Zhou Yu;Yan Bo(College of Clinical Medicine,Jining Medical University,Jining 272013,China;Cheeloo College of Medicine,Shandong University,Jinan 250012,China;Shandong Provincial Laboratory of Cardiac Disease Diagnosis and Treatment,Affiliated Hospital of Jining Medical University,Jining 272029,China)
出处
《中华诊断学电子杂志》
2022年第3期171-176,共6页
Chinese Journal of Diagnostics(Electronic Edition)
基金
国家自然科学基金(81870279)
关键词
心肌梗死
组织蛋白酶B
基因型
多态性
单核苷酸
Myocardial infarction
Cathepsin B
Genotype
Polymorphism
single nucleotide
