本文選題：人枯草溶菌素轉(zhuǎn)化酶基因　切入點：基因多態(tài)性　出處：《西安交通大學(xué)學(xué)報(醫(yī)學(xué)版)》2017年04期 　論文類型：期刊論文

【摘要】：目的探討外周血人枯草溶菌素轉(zhuǎn)化酶9(PCSK9)基因V312F多態(tài)性與不同類型冠心病之間的關(guān)系及臨床意義。方法選取2014年1月-2016年1月年在我院就診的不同類型冠心病患者3 560例作為病例組,按照解剖及病理生理變化分為心絞痛、心肌梗死、無癥狀心肌缺血、缺血性心肌病、猝死5組,同期健康體檢者1 000例為對照組。應(yīng)用聚合酶鏈反應(yīng)(PCR)結(jié)合DNA直接測序技術(shù),對所有入選者PCSK9基因V312F(T/G)多態(tài)位點進行分型。多因素Logistic回歸分析PCSK9基因V312F多態(tài)位點與不同類型冠心病的相關(guān)性。同時檢測研究對象的血脂及PCSK9水平。結(jié)果病例組血清PCSK9、TC、TG、LDLC、陽性家族史的比例高于對照組,HDLC低于對照組(均P0.05);病例組中猝死組各指標變化最明顯,無癥狀心肌缺血組變化最小。病例組中TT、GT基因型和T等位基因頻率分別為3.4%、16.6%和11.7%,明顯高于對照組(1.1%、10.2%、6.2%)(P均0.01)。病例組中猝死組TT、GT的基因型頻率、T等位基因頻率最高,無癥狀心肌缺血組最低(P0.05)。Logistic回歸分析發(fā)現(xiàn)PCSK9基因V312F(T/G)多態(tài)位點TT基因型與冠心病的嚴重程度有關(guān)(OR值為8.463,95%CI為3.505~17.854,P0.001)。結(jié)論PCSK9基因V312F(T/G)位點基因突變與冠心病嚴重程度有關(guān)。
[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.
【作者單位】： 河北省人民醫(yī)院檢驗科;河北省人民醫(yī)院超聲科;河北省人民醫(yī)院體檢中心;河北省人民醫(yī)院藥學(xué)部;河北省人民醫(yī)院生殖遺傳科;
【基金】：河北省科技支撐項目(No.1627 7771D)~~
【分類號】：R440;R541.4
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本文編號：1638319