高脂血症患者SLCO1B1和APOE基因多态性与血脂水平的相关性  

Correlations of SLCO1B1 and APOE gene polymorphisms with blood lipid levels in patients with hyperlipidemia

作　　者：赵雪杰 李晓娜 张璐[1] 荆浩 种丽莉 吕毅[1] ZHAO Xuejie;LI Xiaona;ZHANG Lu;JING Hao;CHONG Lili;LYU Yi(Laboratory Medicine Center,Zhengzhou Yihe Hospital Affiliated to Henan University,Zhengzhou 450018,Henan,China)

机构地区：[1]河南大学附属郑州颐和医院检验医学中心,郑州450018

出　　处：《临床检验杂志》2023年第3期191-194,共4页Chinese Journal of Clinical Laboratory Science

摘　　要：目的探讨高脂血症患者SLCO1B1和APOE基因多态性,分析二者与患者血脂水平的相关性。方法选取郑州颐和医院2019年1月至2021年12月收治的154例脂代谢异常患者为研究对象,同期选择体检健康者113例作为健康人对照组,采用PCR-荧光探针技术检测SLCOIB1和APOE的基因分型,分析基因多态性的分布特点,探讨高脂血症患者SLCOIB1和APOE基因与血脂水平的相关性。结果高脂血症患者SLCO1B1基因以正常代谢性基因表型(*1a/*1a、*1a/*1b和*1b/*1b)为主,占所有基因型的79.9%,其中各单体基因型频率分布以1b型占比最高,为64.4%,疾病组和健康人对照组基因表型频率组间比较差异均无统计学意义(P>0.05)。高脂血症患者APOE基因表型以E3组(E3/E3和E2/E4)为主,占比66.9%,APOE各等位基因频率分布以E3表型占比最高,为76.7%;疾病组E3基因表型明显低于健康人对照组,E4基因表型明显高于健康人对照组,差异均具有统计学意义(P<0.05)。高脂血症患者SLCO1B1各基因表型的三酰甘油(TG)、总胆固醇(TC)、低密度脂蛋白胆固醇(LDL-C)和高密度脂蛋白胆固醇(HDL-C)水平比较差异均无统计学意义(P>0.05);APOE基因E4表型组的TC水平显著高于E2组和E3组,差异其有统计学意义(P<0.05);基因表型E2、E3和E4组的TG、LDL-C和HDL-C水平比较差异均无统计学意义(P>0.05)。结论脂代谢异常患者SLCO1B1和APOE基因多态性分布不均匀,血脂异常可能与SLCO1B1和APOE基因多态性有关。对于脂代谢异常患者,在其使用他汀类药物前进行SLCO1B1及APOE基因型检测尤为重要。Objective To investigate the polymorphisms of SLCO1B1 and APOE genes in patients with hyperlipidemia and their correlations with blood lipid levels.Methods A total of 154 patients with hyperlipidemia and 113 healthy volunteers,who visited Zhengzhou Yihe Hospital between January 2019 and December 2021,were enrolled in the study.The genotypes of their SCO1B1 and APOE genes were detected by the PCR-fluorescence probe technology.Then,the distribution characteristics of SLCOIB1 and APOE gene polymorphisms and their correlations with blood lipid levels in patients with hyperlipidemia were analyzed.Results The SLCO1B1 gene in patients with hyperlipidemia was dominated by normal metabolic genotypes(*1a/*1a,*1a/*1b and*1b/*1b),accounting for 79.9%of all genotypes.The haplotype was dominated by*1b,accounting for 64.4%.There was no significant difference in the distribution frequency of genotypes between the patients with hyperlipidemia and healthy volunteers(P>0.05).The phenotype of APOE gene in patients with hyperlipidemia was dominated by E3 group(E3/E3 and E2/E4),accounting for 66.9%.The distribution frequency of APOE alleles was dominated by E3 phenotype,accounting for 76.7%.The proportion of E3 phenotype in patients with hyperlipidemia was significantly lower than that in healthy volunteers,while the proportion of E4 phenotype in patients with hyperlipidemia was significantly higher than that in healthy volunteers(P<0.05).There were no significant differences in blood triglyceride(TG),total cholesterol(TC),low density lipoprotein cholesterol(LDL-C)and high density lipoprotein cholesterol(HDL-C)levels between different genotypes of SLCO1B1 gene in patients with hyperlipidemia(P>0.05).The blood TC levels in patients with E4 phenotype of APOE gene were significantly higher than those with E2 and E3 phenotypes(P<0.05).There were no significant differences in blood TG,LDL-C and HDL-C levels between E2,E3 and E4 phenotypes.Conclusion The distribution of SLCO1B1 and APOE gene polymorphisms in patients with hyperlipidemia is

关 键 词：高脂血症 SLCO1B1基因 APOE基因 基因多态性 血脂水平 

分 类 号：R446[医药卫生—诊断学]