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目的:研究三磷酸腺苷结合盒转运子A1(ABCA1)R219K基因多态性和AMI患者血脂水平关系以及他汀药物调脂疗效与患者不同基因型的关系。方法:AMI患者(150例),其中ST段抬高型心肌梗死120例,非ST段抬高性心肌梗死30例,对照组(100例)为门诊健康体检者,均清晨空腹采血,测定血清总胆固醇(TC)、三酰甘油(TG)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)、极低密度脂蛋白胆固醇(VLDL-C)。并采用聚合酶链式反应-限制性片段长度多态性(PCR-RFIP)方法对R219K基因多态性进行检测,AMI患者给与普伐他汀40 mg/d,12周后重复测定上述血脂水平。结果:ABCA1基因的R219K多态性基因型频率和等位基因频率在对照组和AMI组相似(P>0.05);AMI患者中RR基因型较KK基因型具有明显升高的血清TG水平和较低的HDL-C水平(P<0.05);KK基因型患者较RR基因型患者相比,普伐他汀治疗明显增加HDL-C水平(P<0.05)。结论:ABCA1基因的R219K多态性与血脂水平相关,并且可影响AMI患者HDL-C水平对普伐他汀的治疗效果。
Objective: To investigate the relationship between R219K gene polymorphism of adenosine triphosphate binding cassette A1 (ABCA1) and serum lipids in patients with AMI, and the relationship between the lipid regulation efficacy of statins and different genotypes of patients. Methods: One hundred and fifty AMI patients (120 cases), including 120 cases of ST-segment elevation myocardial infarction, 30 cases of non-ST-segment elevation myocardial infarction, and 100 cases of control group were all outpatients with fasting blood sampling. Serum TC, TG, HDL-C, LDL-C, VLDL-C. The polymorphism of R219K gene was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFIP). The AMI patients were given pravastatin 40 mg / d. The levels of serum lipids were measured after 12 weeks . Results: The R219K polymorphism frequency and allele frequency of ABCA1 gene were similar in control group and AMI group (P> 0.05). The RR genotype of AMI patients had significantly higher serum TG level than KK genotype Low HDL-C levels (P <0.05); pravastatin treatment significantly increased HDL-C levels in KK genotypes compared with RR genotype patients (P <0.05). CONCLUSIONS: The R219K polymorphism of ABCA1 gene is associated with plasma lipid levels and may affect the therapeutic effect of pravastatin on HDL-C levels in patients with AMI.