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广东地区汉族人群OATP1B1 521T>C基因多态性对冠心病及血脂水平的影响

叶丽丽,邱健,张园   

  1. 广州军区广州总医院心血管内科,广州军区广州总医院心血管内科,广州军区广州总医院心血管内科
  • 收稿日期:2017-09-04 修回日期:2017-09-04 出版日期:2017-09-25
  • 基金资助:
    国家自然科学基金项目资助(项目编号:81402671;项目名称:尿酸通过修饰蛋白作用诱导内皮功能紊乱及花色苷干预作用机制研究)

The Correlation between the OATP1B1 521T>C Genetic Polymorphism and Coronary Heart Disease as well as Plasma Lipid Levels in Guangdong Han Population

Ye Li-li,Qiu Jian and Zhang Yuan   

  1. The Department of Cardiology,General Hospital of Guangzhou Military Command,The Department of Cardiology,General Hospital of Guangzhou Military Command,The Department of Cardiology,General Hospital of Guangzhou Military Command
  • Received:2017-09-04 Revised:2017-09-04 Online:2017-09-25

摘要: 目的:探讨广东地区汉族人群有机阴离子转运多肽1B1(OATP1B1) 521T>C与冠心病及血脂水平的相关性。方法:采用实时荧光定量TaqMan-MGB 探针法,检测288例冠心病患者和267例对照组患者OATP1B1 521T>C的基因型,将其检测结果与DNA测序结果进行比较,并按常规方法测定、比较和分析突变基因型者和野生基因型者的血脂。结果:冠心病组OATP1B1 521T>C的T/C基因型频率明显低于对照组(17% vs 25%,P<0.05),且OATP1B1 521T>C的C等位基因频率明显低于对照组(10% vs 18%,P<0.05),而Logistic回归分析法对影响冠心病的相关因素进行回归分析,亦显示 OATP1B1 521T>C与冠心病有相关性(P<0.05)。且野生型OATP1B1 521T>C基因型者较突变型OATP1B1 521T>C基因型者胆固醇水平较低,甘油三酯差异无统计学意义。结论:OATP1B1 521T>C基因多态性与冠心病及高胆固醇血症的发生可能相关。

Abstract: Objective:To study the relationship between the OATP1B1 521T>C genetic polymorphism and coronary heart disease(CHD) and to investigate the effect of OATP1B1 521T>C gene polymorphism on plasma lipid levels in Guangdong Han population.Methods:Genetypes of 288 coronary heart disease subjects and 267 control group subjects were detected by the TaqMan-MGB probe real-time fluorescence quantitative PCR, and the results were compared with those of DNA sequencing.Plasma lipid levels were measured by routine method.Results:The frequencies of T/C genotype and C allele of OATP1B1 521T>C gene of the CHD subjects were significantly lower than those of the control subjects(T/C genotype:17% vs 25%,P<0.05;C allele:10% vs 18%, P<0.05) and Binary logistic stepwise regression analysis revealed significant relationship between OATP1B1 52IT>C gene polymorphism and CHD.The cholesterol levels in wild genotype were lower than those in mutant genotype of OATP1B1 52IT>C, but no relationgship was seen between OATP1B1 52IT>C gene polymorphism and triglyceride level.Conclusion:These results suggested that OATP1B1 521T>C gene polymorphism was in association with the occurrence and development of CHD and hypercholesterolemia.