冠心病患者外周血人枯草溶菌素转化酶9基因V312F位点的多态性及其临床意义

发布时间：2018-03-20 08:40

  本文选题：人枯草溶菌素转化酶基因　切入点：基因多态性　出处：《西安交通大学学报(医学版)》2017年04期 　论文类型：期刊论文

【摘要】：目的探讨外周血人枯草溶菌素转化酶9(PCSK9)基因V312F多态性与不同类型冠心病之间的关系及临床意义。方法选取2014年1月-2016年1月年在我院就诊的不同类型冠心病患者3 560例作为病例组,按照解剖及病理生理变化分为心绞痛、心肌梗死、无症状心肌缺血、缺血性心肌病、猝死5组,同期健康体检者1 000例为对照组。应用聚合酶链反应(PCR)结合DNA直接测序技术,对所有入选者PCSK9基因V312F(T/G)多态位点进行分型。多因素Logistic回归分析PCSK9基因V312F多态位点与不同类型冠心病的相关性。同时检测研究对象的血脂及PCSK9水平。结果病例组血清PCSK9、TC、TG、LDLC、阳性家族史的比例高于对照组,HDLC低于对照组(均P0.05);病例组中猝死组各指标变化最明显,无症状心肌缺血组变化最小。病例组中TT、GT基因型和T等位基因频率分别为3.4%、16.6%和11.7%,明显高于对照组(1.1%、10.2%、6.2%)(P均0.01)。病例组中猝死组TT、GT的基因型频率、T等位基因频率最高,无症状心肌缺血组最低(P0.05)。Logistic回归分析发现PCSK9基因V312F(T/G)多态位点TT基因型与冠心病的严重程度有关(OR值为8.463,95%CI为3.505~17.854,P0.001)。结论PCSK9基因V312F(T/G)位点基因突变与冠心病严重程度有关。
[Abstract]:Objective to investigate the relationship between V312F polymorphism in peripheral blood and different types of coronary heart disease and its clinical significance. Methods the patients with different types of coronary heart disease from January 2014 to January 2016 in our hospital from January 2014 to January 2016 were selected to study the relationship between V312F polymorphism and different types of coronary heart disease. 3 560 cases as case group, According to the anatomical and pathophysiological changes, the patients were divided into 5 groups: angina pectoris, myocardial infarction, asymptomatic myocardial ischemia, ischemic cardiomyopathy, sudden death, and 1 000 healthy persons as control group. Polymerase chain reaction (PCR) combined with DNA direct sequencing technique was used. The polymorphic loci of PCSK9 gene V312F / T / G were classified. Multivariate Logistic regression analysis showed the correlation between V312F polymorphism of PCSK9 gene and different types of coronary heart disease. Blood lipid and PCSK9 levels were also detected. The proportion of positive family history was higher than that of the control group (all P 0.05), and the change of every index in the sudden death group was the most obvious. The frequency of TT GT genotype and T allele were 3.4% and 11.7% respectively in the asymptomatic myocardial ischemia group, which were significantly higher than that in the control group (1.1% and 10.2%, P 0.01). The frequency of TT GT genotype and T allele was the highest in the sudden death group. Logistic regression analysis showed that TT genotype of PCSK9 gene V312FT / G was correlated with the severity of coronary heart disease (OR = 8.46395 CI = 3.50517.854g / P 0.001). Conclusion the mutation of PCSK9 gene V312FN T / G) gene is related to the severity of coronary heart disease.
【作者单位】： 河北省人民医院检验科;河北省人民医院超声科;河北省人民医院体检中心;河北省人民医院药学部;河北省人民医院生殖遗传科;
【基金】：河北省科技支撑项目(No.1627 7771D)~~
【分类号】：R440;R541.4
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本文编号：1638319