中国老年人心肌梗死遗传易感性与血管内皮型一氧化氮合酶基因Glu298Asp多态性的关系

背景诸多研究认为血管内皮型一氧化氮合酶(endothelialnitric oxide synthase,eNOS)基因多态性与心、脑、肾疾病存在相关性,但eNOS-Glu298Asp与中国老年人心肌梗死的关系是否相关尚不明确.设计以诊断为依据的病例对照研究.目的探讨老年人血管内皮型一氧化氮合酶基因Glu298Asp多态性的分布,及其与老年心肌梗死的关系.地点、对象和方法37例老年心肌梗死患者为病例组,均为南京医科大学第一附属医院门诊及住院患者,其中20例既往无高血压史者为病例亚组;172例本院体检中心复检者(对照组),其中92例既往无高血压者为对照亚组,分别检测病例组和对照组的身高、体质量、空腹血脂等指标,采用聚合酶链反应(polymerasechain reaction,PCR)和限制性片断长度多态性(restrictionfragmentlengthpolymorphism,RFLP)检测eNOS基因Glu298Asp多态性.主要观察指标4组老年人eNOS基因Glu298Asp多态性及298Asp等位基因频率.结果病例组Glu/Asp基因型高于对照组(32.43%和18.02%),两组eNOS基因Glu298Asp多态性构成差异有显著性意义(x2=3.87,P<0.05).病例亚组Glu/Asp基因型(35.00%)高于对照亚组(10.87%),差异有显著性意义(x2=7.43,P<0.01).病例组298Asp等位基因频率高于对照组,差异无显著性意义(P>0.05).病例亚组298Asp等位基因频率高于对照亚组,差异有显著性意义(x2=6.82,P<0.01).结论eNOS基因Glu298Asp多态性在中国老年人群中存在,Glu/Asp基因型和298Asp等位基因可能是中国老年人心肌梗死的遗传易感指标.

Correlation betweenGlu298Asp polymorphism of vascular endothelial nitric oxide synthase gene and myocardialinfarction in the elderly Chinese

BACKGROUND: A good many researches believe that the gene polymorphism of vascular endothelia nitric oxide synthase(eNOS) correlate with diseases of heart, brain and kidney. However, it is still not clear whether eNOS Glu298Asp correlates with myocardial infarction in the elderly Chinese.OBJECTIVE: To investigate the distribution of Glu298Asp polymorphism of vascular eNOS in the elderly as well as correlation between Glu298Asp polymorphism of eNOS and myocardial infarction in the elderly Chinese.DESIGN: A case-controled study based on diagnosis.SETTING, PARTICIPANTS and METHODS: A total of 37 patients with myocardial infarction were selected into case group, which all of them were patients from either outpatient department or inpatient department of the First Affiliated Hospital of Nanjing Medical University. Thereinto, 20 cases without hypertensive history were allocated into case subgroup. Totally 172 subjects selected from the re-testees of physical checkup of our hospital were assigned into control group, of which 92 cases without hypertensive history were allocated into control subgroup. Indices like height, body mass and fasting blood sugar were detected respectively in all participants of all groups. The polymorphism of Glu298Asp of eNOS gene was assayed by polymerase chain reaction(PCR), and restriction fragment length polymorphism (RELP).MAIN OUTCOME MEASURES: The polymorphism of Glu298Asp of eNOS gene as well as the allelic frequency of 298Asp in the elderly of four groups.RESULTS: Genotype of Glu/Asp of the case group was higher than that of the control group(32.43% and 18.02% respectively) . The genotype composition of Glu298Asp polymorphism had significant difference between the case group and the control group(x2 = 3.87, P < 0. 05) . Between normotensive subgroups, Genotype Glu/Asp of the case subgroup was higher than that of the control subgroup(35.00% and 10. 87% respectively) . The genotype composition of Glu298Asp polymorphism of the eNOS gene also had significant difference between the case subgroup and the control subgroup (x2 = 7.43, P < 0.01) . The allelic frequency of 298Asp of the case group was higher than that of the control group without statistical significance (16. 22% and 9.01% respectively, P > 0. 05) . Between normotensive subgroups, the allelic frequency of 298Asp of the case subgroup was significantly higher than that of the control subgroup(17.50% and 5.43% respectively, x2 = 6.82, P < 0.01 ) ).CONCLUSION: Glu298.Asp polymorphism of the eNOS gene exists in the elderly Chinese. The genotype of Glu/Asp and allelic frequency of 298Asp might be a genetic susceptible marker of myocardial infarction in the elderly Chinese.