蚌埠及周边地区血脂异常患者SLCO1B1与APOE基因多态性分析及临床意义

Gene polymorphism analysis and clinical significance of SLCO1B1 and APOE in patients with dyslipidemia in Bengbu and its surrounding area

目的分析蚌埠及周边地区血脂异常患者有机阴离子转运多肽编码基因SLCO1B1和载脂蛋白E(APOE)基因多态性分布及其临床意义。方法利用聚合酶链反应(PCR)-荧光探针技术,对2020年7-12月在蚌埠医学院第二附属医院就诊的血脂异常患者1530例外周全血基因组中SLCO1B1和APOE基因多态性进行检测,分析其多态性分布情况并统计不同性别基因型分布差异。结果蚌埠及周边地区患者APOE各基因型所占比例分别为0.52%(E2/E2)、14.12%(E2/E3)、1.96%(E2/E4)、67.12%(E3/E3)、15.10%(E3/E4)、1.18%(E4/E4)。其中APOE基因型中疗效较好基因型占比为14.64%,疗效正常基因型占比为69.08%,疗效较差基因型占比为16.28%。蚌埠及周边地区患者SLCO1B1各基因型所占比例分别为4.90%(*1a/*1a)、30.13%(*1a/*1b)、36.60%(*1b/*1b)、0.59%(*1a/*5)、8.24%(*1a/*15),17.32%(*1b/*15)、0.26%(*5/*5),0.13%(*5/*15),1.83%(*15/*15)。SLCO1B基因型中正常肌病风险患者占比为71.63%,中度肌病风险患者占比为26.15%,高度肌病风险患者占比为2.22%。基因型频率观察值符合HardyWeinberg遗传平衡,具有群体代表性,各基因型组合在男女患者间的分布比较,差异无统计学意义(P>0.05)。结论蚌埠及周边地区血脂异常患者SLCO1B1和APOE的基因多态性分布和性别无关,同时它们会影响他汀类药物的疗效及不良反应风险。对使用他汀类药物患者SLCO1B1和APOE进行基因多态性分析,能够辅助临床制定最合理的给药方案,并能达到精用药物的目的。

Objective To analyze the gene polymorphism distribution and clinical significance of organic anion transport polypeptide coding gene SLCO1 B1 and apolipoprotein E(APOE)in patients with dyslipidemia in Bengbu and its surrounding area.Methods Polymerase chain reaction(PCR)-fluorescent probe technique was used to detect the gene polymorphism of SLCO1 B1 and APOE in the peripheral whole blood genome of1530 patients with dyslipidemia who were treated in the Second Affiliated Hospital of Bengbu Medical College from July to December 2020.The distribution of polymorphism was analyzed and the differences of genotype distribution between different genders were counted.Results The proportion of APOE genotypes in patients in Bengbu and surrounding areas were 0.52%(E2/E2),14.12%(E2/E3),1.96%(E2/E4),67.12%(E3/E3),15.10%(E3/E4),and 1.18%(E4/E4),respectively.Among the APOE proportion of genotype 14.64%had better curative effect,69.08%had normal curative effect,and 16.28%had poor curative effect.The percentage of SLCO1 B1 genotypes in patients in Bengbu and its surrounding areas were 4.90%(*1 a/*1 a),30.13%(*1 a/*1 b),36.60%(*1 b/*1 b),0.59%(*1 a/*5),8.24%(*1 a/*15),17.32%(*1 b/*15),0.26%(*5/*5),0.13%(*5/*15),1.83%(*15/*15).In SLCO1 B1 genotype,the proportion of patients with normal myopathy risk was 71.63%,the proportion of patients with moderate risk of myopathy was 26.15%,and the proportion of patients with high myopathy risk was 2.22%.The observed values of genotype frequencies were in line with Hardy-Weinberg genetic balance,which was representative of the population.There was no significant difference in the distribution of each genotype combination between male and female patients(P>0.05).Conclusion The distribution of SLCO1 B1 and APOE gene polymorphism in dyslipidemia patients in Bengbu and its surrounding area has nothing to do with gender,and they also affect the efficacy of statins and the risk of adverse reactions.Analysis of SLCO1 B1 and APOE gene polymorphism in patients who use statins can help clinic to make the most reasonable drug administration plan and achieve the purpose of refined drug use.