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囊泡相关膜蛋白8基因多态性与冠状动脉粥样硬化性心脏病的相关性研究
引用本文:段成城,徐力辛,陈倩.囊泡相关膜蛋白8基因多态性与冠状动脉粥样硬化性心脏病的相关性研究[J].中华医学遗传学杂志,2010,27(3).
作者姓名:段成城  徐力辛  陈倩
作者单位:1. 1518104,广东省深圳市,广州医学院附属深圳沙井医院心内科
2. 温州医学院附属第一医院心血管内科
摘    要:目的 研究囊泡相关膜蛋白8(synaptobrevins/vesicle-associated membrane proteins 8,VAMP8)基因rs1010多态性在中国汉族人群中的分布及与冠状动脉粥样硬化性心脏病(简称冠心病)的相关性.方法 采用聚合酶链反应-限制性片段长度多态性技术,对汉族185例冠心病患者及149名正常人VAMP8 rs1010基因多态性,基因型及等位基因频率分布进行研究.结果 研究人群中存在VAMP8 rs1010基因多态性,基因型符合Hardy-Weinberg平衡,冠心病患者A等位基因频率显著高于对照组(67.3%VS 53.0%,P<0.05).Logistic回归分析得出:VAMP8基因(AA+AG)基因型是冠心病的独立危险因素,(AA+AG)基因型比GG基因型的比数比为1.969,95%可信区间为1.032~3.755.结论 VAMP8 rs1010基因多态性与冠心病有关,A等位基因可能是汉族人群冠心病的遗传危险因素.

关 键 词:冠状动脉粥样硬化性心脏病  囊泡相关膜蛋白8  遗传多态性

Association of the polymorphism of synaptobrevins/vesicle-associated membrane proteins 8 gene with coronary heart disease in Chinese Han population
DUAN Cheng-cheng,XU Li-xin,CHEN Qian.Association of the polymorphism of synaptobrevins/vesicle-associated membrane proteins 8 gene with coronary heart disease in Chinese Han population[J].Chinese Journal of Medical Genetics,2010,27(3).
Authors:DUAN Cheng-cheng  XU Li-xin  CHEN Qian
Abstract:Objective To investigate the association of synaptobrevins/vesicle-associated membrane proteins 8 (VAMP8) gene rs1010 polymorphism with coronary heart disease (CHD) in Chinese Han population. Methods The allele and genotype frequencies of the VAMP8 gene rs1010 locus in 185 CHD patients and 149 controls were analyzed by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing. Results There was polymorphism of the VAMP8 gene rslOlO locus in the studied population. The distribution of VAMP8 genotypes was in Hardy-Weinberg equilibrium. The frequency of the A allele in the CHD group was significantly higher than that in control (67.3% vs 53.0%, P<0. 05). Multiple logistic regression analysis showed that genotypes AA and AG were independent risk factors of coronary heart disease. The odds ratio (OR) of (AA+AG) genotype versus GG genotype was 1. 969,95% CI= 1. 032-3. 755. Conclusion The VAMP8 rs1010 polymorphism was associated with CHD risk in Chinese Han population, the A allele might serve as a genetic risk factor of coronary heart disease.
Keywords:coronary heart disease  synaptobrevins/vesicle-associated membrane proteins 8  genetic polymorphism
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