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Title:: Effect of R219K polymorphism of ABCA1 gene on lipid-lowering response to statin in patients with acute myocardial infarction

作者:: 李佳; 王岚峰; 黄宇鹏; 王中华; 王欢; (哈尔滨医科大学第一临床医学院心内科，黑龙江哈尔滨 150001)

Author(s):: LI Jia; WANG Lan-feng; HUANG Yu-peng; WANG Zhong-hua; WANG Huan; (Department of Cardiology, First Hospital of Harbin Medical University, Harbin 150001, Heilongjiang, China)

关键词:: 三磷酸腺苷结合盒转运子A1; 基因多态性; 3-羟-3甲基戊二酰辅酶A还原酶抑制剂

Keywords:: ATP-binding cassette transporter A1; genetic polymorphism; HMG-COA reducatse inhibitor

分类号:: R541.4

DOI:: -

文献标识码:: A

摘要:: 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。

Abstract:: AIM:To investigate the effects of the R219K polymorphism of ATP-binding cassette transporter A1 (ABCA1) gene on serum lipid levels and the response to statin therapy in patients with acute myocardial infarction (AMI). METHODS: A total of 250 subjects were studied (150 cases with AMI and 100 controls without signs or symptoms of coronary heart disease). AMI patients were treated with pravastatin (40 mg/day). Fasting serum lipids were determined before and after 12 weeks of treatment. Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). RESULTS: The R219K polymorphism of ABCA1 gene was not significantly associated with AMI (P>0.05). Compared with controls, patients with the RR genotypes had significantly higher serum triglyceride (TG) levels and lower high-density lipoprotein cholesterol (HDL-C) levels than those with the KK genotypes (P<0.05). The effects of pravastatin to increase HDL-C levels were significantly better in KK homozygous patients compared with patients with RR-homozygous patients (P<0.05). CONCLUSION: The R219K polymorphism of ABCA1 is associated with altered lipoprotein levels and R219K variant significantly modulates the HDL-C response to pravastatin in patients with AMI.

参考文献/References

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ABCA1基因R219K多态性对AMI患者他汀药物调脂效应的影响(PDF)

《心脏杂志》[ISSN:1009-7236/CN:61-1268/R]

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