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作 者:陈金星[1] 刘瑢[2] 张宇[1] 龚玲[1] 邵丽颖[1] 李卫菊[2] 惠汝太 汪一波[1]
机构地区:[1]中国医学科学院北京协和医学院,国家心血管病中心,阜外心血管病医院,心血管疾病国家重点实验室,心血管病基因研究室&中德分子医学研究室,北京100037 [2]北京大学医院,北京100871
出 处:《中国分子心脏病学杂志》2013年第2期493-496,共4页Molecular Cardiology of China
基 金:国家自然科学基金31171220;协和新星计划2011XH05;中央高校基本科研业务费专项资金2012Y04
摘 要:目的 CD59参与免疫、动脉粥样硬化等过程,CD59遗传变异是否与冠心病、慢性心肌梗塞相关研究甚少。我们探索在CD59启动子区、内含子区、编码区和3’非翻译区域的遗传变异与冠心病相关性,推断CD59在冠心病发生发展中的作用。方法根据生物信息学分析结果,我们选取了CD59的7个单核苷酸多态性(SNP)rs7046,rs831603,rs831600,rs704700,rs1718067,rs1047581,和rs77450648。在病例对照研究中,入选对照661例,非心梗冠心病661例,慢性心梗626例,使用MassARRAY高通量DNA飞行时间质谱法进行基因分型,基因分型结果经测序来进一步验证。利用SPSS软件进行统计学分析。结果非心梗冠心病组、慢性心梗组和对照组均存在CD59的其中6个SNPs,基因型频率分布符合Hardy—Weinberg平衡。非心梗冠心病和慢性心梗病例组与对照组CD59的6个单核苷酸多态性的基因型频率和等位基因频率无显著性差异。结论 CD59遗传变异与非心梗冠心病和慢性心肌梗塞无显著相关性。Objective CD59 is involved in immunity, atherosclerosis, but little is known regarding the association of CD59 genetic variants with coronary artery disease (CAD). Our aim is to determine the association of CD59 tagged genetic variants with 2 types of coronary artery disease, including non-myocardial infarction (Ml) CAD and chronic MI, and conclude the role of CD59 involved in CAD. Methods In a case-control study, the rs7046, rs831603, rs831600, rs704700, rs1718067, rs1047581, and rs77450648 polymorphisms were selected to analyze after in silico analysis. Total 661 patients with non-MI CAD, 626 patients with chronic MI and 661 controls were recruited. Genotyping was performed by using MassAR- RAY high-throughput DNA analysis with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Reproducibility of genotyping was confirmed by bidirectional sequencing in 500 samples and the reproducibility was 99.4%. Statistical analysis was performed using SPSS 13.0 software. Results In non-M1 CAD, chronic MI groups and the control group, only rs77450648 was not observed, and the frequency distribution of the other polymorphisms fulfilled with the Hardy-Weinberg equilibrium. No association was observed between the 6 SNPs and non-Ml CAD or chronic MI. Conclusion CD59 SNPs were not associated with CAD.
关 键 词:CD59 单核苷酸多态性 非心梗冠心病 慢性心肌梗塞
分 类 号:R541.4[医药卫生—心血管疾病]
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