不同发病年龄冠心病患ApoE与SLCO1B1基因多态性分析及其临床意义  

Analysis of ApoE and SLCO1B1 gene polymorphisms and their clinical significance in patients with coronary heart disease of different age of onset

作　　者：王栋 杨泺 李炼[1] 颜新生 WANG Dong;YANG Luo;LI Lian;YAN XinSheng(Department of Clinical Laboratory,Wuhan Asia General Hospital,Wuhan Asia General Hospital Affiliated to Wuhan University of Science and Technology,Wuhan,Hubei 430056,China)

机构地区：[1]武汉亚心总医院/武汉科技大学附属武汉亚心总医院医学检验科,湖北武汉430056

出　　处：《检验医学与临床》2024年第S02期56-61,共6页Laboratory Medicine and Clinic

基　　金：湖北省武汉亚心总医院科研创新基金项目(2022KYCX1-B09)。

摘　　要：目的分析ApoE和SLCO1B1基因多态性位点在武汉地区不同发病年龄及不同性别汉族冠心病人群中的分布特点,为他汀类药物的个体化用药提供参考依据。方法利用PCR-荧光探针法技术定性检测459例冠心病患者的外周全血基因组中ApoE(388T>C,526C>T)和SLCO1B1(388A>G,521T>C)位点突变,分析其多态性分布特点,比较不同发病年龄及性别间基因型分布差异。结果ApoE基因6种表型均检出,E3/E3(65.58%)占比最高,E2/E2、E2/E3、E2/E4、E3/E4和E4/E4占比分别为:0.44%、13.94%、2.61%、16.56%和0.87%。ApoE大众类基因型人群占比最高(68.19%)。SLCO1B1基因检出6种表型,*1a/*1a(43.57%)占比最高,*1a/*1b、*1b/*1b、*1a/*5、*1a/*15和*5/*5占比分别为:28.10%、7.41%、15.90%、4.79%和0.22%。SLCO1B1基因的正常肌病风险型人群占比最高(79.08%)。不同发病年龄及不同性别间冠心病患者ApoE和SLCO1B1基因各表型分布与研究人群分布特征基本一致,各组别表型之间差异无统计学意义。结论武汉地区汉族冠心病患者ApoE和SLCO1B1基因多态性分别以大众类基因型和正常肌病风险型为主,大部分患者服用他汀类药物降脂疗效较好,诱发肌病的风险较低,ApoE和SLCO1B1基因多态性分布与发病年龄及性别无关。Objective To analyze the distribution characteristics of ApoE and SLCO1B1 gene polymorphic loci in Han Chinese coronary heart disease populations of different age of onset and different genders in Wuhan,and to provide a reference basis for the individualized use of statins.Methods The PCR-fluorescent probe assay technique was used to qualitatively detect mutations at the ApoE(388T>C,526C>T)and SLCO1B1(388A>G,521T>C)loci in the peripheral whole-blood genomes of 459 patients with coronary artery disease,to analyze the characteristics of the distribution of their polymorphisms,and to compare the differences in the distribution of the genotypes between different age groups of the onset of the disease and between different groups of the sexes.Results Six phenotypes of ApoE gene were detected,with E3/E3(65.58%)accounting for the highest proportion,E2/E2,E2/E3,E2/E4,E3/E4 and E4/E4 accounting for 0.44%,13.94%,2.61%,16.56%and 0.87%,respectively.The ApoE general genotypes population had the highest percentage(68.19%).Six phenotypes were detected in SLCO1B1 gene,of which*1a/*1a(43.57%)accounted for the highest proportion,*1a/*1b,*1b/*1b,*1a/*5,*1a/*15 and*5/*5 accounting for 28.10%,7.41%,15.90%,4.79%and 0.22%,respectively.The SLCO1B1 gene had the highest percentage of normal myopathy risk type population(79.08%).The phenotypic distribution of ApoE and SLCO1B1 genes in CHD patients with different age and gender was basically consistent with the general population distribution trend,and the differences between phenotypes of each group were not statistically significant.Conclusion The ApoE and SLCO1B1 gene polymorphisms of Han Chinese patients with coronary heart disease in Wuhan area are mainly general genotypes and normal myopathy risk type,respectively.Most patients who take statins have good lipid-lowering effect,and the risk of inducing myopathy was lower.The distribution of ApoE and SLCO1B1 gene polymorphisms is not related to the age of onset of the disease and gender.

关 键 词：冠心病 早发冠心病 APOE SLCO1B1 基因多态性 

分 类 号：R541.4[医药卫生—心血管疾病]