| GATA5基因启动子序列单核苷酸多态性可增加急性心肌梗死的易感性 |
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| 引用本文： | 宋志鹏,陈露,逄淑超,闫波.GATA5基因启动子序列单核苷酸多态性可增加急性心肌梗死的易感性[J].中国病理生理杂志,2020(3):415-420. |
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| 作者姓名： | 宋志鹏 陈露 逄淑超 闫波 |
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| 作者单位： | 山东大学齐鲁医学院;济宁医学院附属医院兖州院区;山东省心脏病诊疗重点实验室;济宁医学院附属医院心血管疾病分子遗传学中心;山东省中美转化医学合作研究中心 |
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| 基金项目： | 国家自然科学基金资助项目(No.81870279)。 |
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| 摘 要： | 目的:通过病例-对照研究,探讨GATA结合蛋白5(GATA binding protein 5,GATA5)基因启动子序列单核苷酸多态性(single nucleotide polymorphism,SNP)与急性心肌梗死(acute myocardial infarction,AMI)的相关性。方法:通过χ~2检验、logistic回归、单倍型分析、细胞转染及电泳迁移率变动分析(electrophoretic mobility shift assay,EMSA)对SNPs进行遗传及功能分析。结果:校正混杂因素后,rs80197101位点GA和GA+AA基因型与AMI显著相关(OR=2.280,95%CI:1.027~5.061,P=0.043;OR=2.312,95%CI:1.045~5.116,P=0.039)。rs77067995位点CT和CT+TT基因型也与AMI显著相关(OR=2.280,95%CI:1.027~5.061,P=0.043;OR=2.312,95%CI:1.045~5.116,P=0.039)。rs80197101和rs77067995呈完美连锁不平衡,两者形成的单倍型AT在AMI组的频率显著高于对照组(χ~2=6.960,P=0.008)。EMSA及转染结果表明,这些SNPs通过影响转录因子与GATA5基因启动子的结合,显著增加GATA5基因启动子在HEK-293细胞和H9c2细胞中的转录活性(P<0.001)。结论:GATA5基因启动子序列中的rs80197101与rs77067995可显著增加AMI的易感性。rs80197101的等位基因A和rs77067995的等位基因T可能是AMI的危险等位基因,单倍型AT可能是AMI的危险单倍型。
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| 关 键 词： | 急性心肌梗死 GATA结合蛋白5 单核苷酸多态性 易感性 启动子 |
Single nucleotide polymorphisms in promoter sequence of GATA5 gene increase susceptibility to acute myocardial infarction |
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| SONG Zhi-peng,CHEN Lu,PANG Shu-chao,YAN Bo.Single nucleotide polymorphisms in promoter sequence of GATA5 gene increase susceptibility to acute myocardial infarction[J].Chinese Journal of Pathophysiology,2020(3):415-420. |
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| Authors: | SONG Zhi-peng CHEN Lu PANG Shu-chao YAN Bo |
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| Institution: | (Cheeloo College of Medicine,Shandong University,Jinan 250014,China;Yanzhou Hospital District,Affiliated Hospital of Jining Medical University;Shandong Provincial Key Laboratory of Cardiac Disease Diagnosis and Treatment,Affiliated Hospital of Jining Medical University;The Center for Molecular Genetics of Cardiovascular Diseases,Affiliated Hospital of Jining Medical University;Shandong Provincial Sino-US Cooperation Research Center for Translational Medicine,Affiliated Hospital of Jining Medical University,Jining 272000,China) |
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| Abstract: | |
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| Keywords: | Acute myocardial infarction GATA binding protein 5 Single nucleotide polymorphism Susceptiblity Promoter |
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