【作者】 刘文娟；

【导师】 甘子明；

【作者基本信息】 新疆医科大学 ， 人体解剖与组织胚胎学， 2009， 硕士

【摘要】 目的:本实验通过调查染色体9p21上两个单核甘酸多态性(rs10757274和rs2383206)的基因型和等位基因的分布频率,探讨两个单核苷酸多态性在中国汉族人群中对心肌梗死的影响。方法:采取医院为基础的病例对照研究;心肌梗死组为参照WHO制定的心肌梗死诊断标准判定为非致命性心肌梗死的患者共432例;对照组为无冠心病等病史的住院病人共430例,设置样本时男女比例不限;通过调查表确定吸烟、饮酒、血压等心肌梗死发病的风险因素;采集血样5ml/人;用酚-氯仿法提取DNA,对DNA进行纯化、定量;使用SNPstream系统扫描后,启动SNP admin程序进行数据分析。结果:1.两组间临床资料风险因素的比较,BMI、吸烟、高血压、糖尿病、高脂血症在心肌梗死组与对照组中有显著统计学差异(P<0.05)。2. rs10757274多态AA、AG、GG基因型频率在心肌梗死组及对照组中分别为24.7%、52.8%、22.5%及35.8%、47.0%、17.2%;rs2383206多态分别为23.6%、52.8%、23.6%及36.4%、45.2%、18.4%,基因型频率在心肌梗死组与对照组中有显著统计学差异(P<0.05),通过校正心肌梗死风险因素后差异依然存在。3. rs10757274多态A、G等位基因分布频率在心肌梗死组及对照组中分别为51.1%、48.9%及59.3%、4.7%;rs2383206多态分别为50.0%、50.0%及59.0%、41.0%,等位基因分布频率在心肌梗死组与对照组中有显著统计学差异(P<0.05)。4.应用多元logistic分析,rs10757274多态和rs2383206多态心肌梗死组与对照组的比值比分别为1.40和1.44。结论:1.实验证实BMI、吸烟、高血压、糖尿病、高脂血症为心肌梗死风险因素。2.rs10757274多态的和rs2383206与心肌梗死的发生有关,且均使心肌梗死患病风险增加,其中G等位基因的存在与心肌梗死有关。更多还原

【Abstract】 Objective:Investigate the effect of two significant association of single nucleotide polymorphisms (SNPs) on chromosome 9p21: rs10757274 and rs2383206 to myocardial infarction (MI) in Chinese Hans,by comparing and analysing the genotypes frequencies and alleles frequencies in Case and Controls.Methods:In a hospital based case control study, cases were represented of the first hospitalized non-fatal myocardial infarction who were diagnosed by standard of World Health Organization (WHO) .A total of 432 patients were interviewed. Controls were 430 subjects without a history of coronary artery disease, cancer and disease of thyroid gland. The proportion of men to women in cases and controls are not limited. The cardiovascular risk factors waere based on questionnaires,for example Smoking,Body mass index (BMI),Hypertension and so on. The sample is 5 ml/person.Using method of Phenol-Chloroform to purify DNA and quantitative, to analyse data by SNP admin. Results:1.comparing risk factors of MI, significant differences in BMI, smoking, drinking, hypertension, diabetes, and hyperlipoidemia were observed between the cases and controls ( P<0.05) .2. the genotypes frequencies of rs10757274 in two groups were 24.7%、52.8%、22.5% and 35.8%、47.0%、17.2%;rs2383206 were 23.6%、52.8%、23.6% and 36.4%、45.2%、18.4%.The distributions of the genotypes frequencies were significantly different between two groups( P<0.05).The association remained after adjusting for risk factors.3. the allele frequencies of rs10757274 in two groups were 51.1%、48.9% and 59.3%、4.7%;rs2383206 were 50.0%、50.0% and 59.0%、41.0%.The distributions of the allele frequencies were significantly different between two groups( P<0.05) .4. In an additive model in logistic analysing, The Odds Ratios of rs10757274 and rs2383206 were 1.40 and 1.44. Conclusion:1.Research show BMI,Smoking,Hypertension,Diabetes,Hyperlipidemia were risk factors of MI.2.rs10757274 and rs2383206 increase the risk of MI. Allele (G) was association with MI.更多还原