摘要
目的 研究重庆地区高脂血症人群载脂蛋白E(ApoE)和SLCO1B1基因多态性的分布情况,以探究其多态性对他汀类药物的影响。方法 选取中国人民解放军陆军军医大学第三附属医院497例血脂异常患者[空腹血清总胆固醇(TC)>5.2 mmol/L或三酰甘油(TG)>1.7 mmol/L或低密度脂蛋白胆固醇(LDL-C)> 3.4 mmol/L或高密度脂蛋白胆固醇(HDL-C)<1.0 mmol/L],男252例,女245例,平均年龄( 66± 11)岁。提取基因组DNA,采用PCR-荧光探针法测定ApoE基因ApoE2(526C>T)、ApoE4 (388T>C)和SLCO1B1基因SLCO1B1*1b (388A>G)、SLCO1B1*5(521T>C)多态性;统计ApoE和SLCO1B1基因型频率和等位基因频率。根据不同ApoE基因型的他汀类药物疗效将其分为疗效良好组、疗效正常组和疗效不良组,明确3组间SLCO1B1基因型分布频率。结果 ApoE基因型分布频率为E2/E2 1.00%,E2/E3 12.47 %,E3/E3 66.80 %,E3/E4 16.50%,E2/E4 2.01%和E4/E4 1.21%,即疗效良好组13.48%,疗效正常组 68.81 %,疗效不良组17.71%。SLCO1B1基因型频率:*1a/*1a型 6.24%,*1a/*1b型 30.18%,*1b/*1b型 42.66 %,*1a/*15型 3.02%,*1b/*15型 16.10%,*15/*15型 1.81%。疗效良好组、正常组和不良组中SLCO1B1基因型分布整体均匀,没有显著差别。疗效良好组中正常风险基因型占82.09%,中等风险基因型占 17.91 %,高度风险基因型0%;疗效正常组中正常风险基因型占78.95%,中等风险基因型占18.72%,高等风险基因型占2.33%;疗效不良组中正常风险基因型占75.00%,中等风险基因型占23.87%,高等风险基因型仅有1例占1.13%。结论 重庆地区高血脂人群适合使用他汀类药物进行治疗,并可通过基因型别调整药物剂量,以降低其不良反应。
Objective To study the distribution of apolipo protein E (ApoE) and SLCO1B1 gene polymorphisms in hyperlipidemia crowd in chongqing,and to explore the influence of their polymorphisms on statins. Methods Randomly selected 497 cases of patients with dyslipidemia from the third affiliated hospital of the army medical university[Fasting serum total cholesterol (TC)> 5.2 mmol/L or triglycerides (TG)> 1.7 mmol/L or low-density lipoprotein cholesterol (LDL-C)>3.4 mmol/L or high-density lipoprotein cholesterol (HDL-C)<1.0 mmol/L],there were 252 males and 245 females with an average age of (66±11) years.Extraction of peripheral venous blood genomic DNA,The genotypes in ApoE gene ApoE2 (526C>T),ApoE4 (388T>C) and SLCO1B1 gene *1b( 388A>G),*5( 521T>C) were examined by described methods using Real-Time PCR analysis.Genotype frequency and allele frequency of ApoE and SLCO1B1 were calculated.According to the efficacy of statins with different ApoE genotypes,they were divided into the group with good efficacy,the group with normal efficacy and the group with poor efficacy.The distribution frequency of SLCO1B1 genotype among the three groups was determined. Results ApoE genotype distribution of E2/E2 1.00 %,E2/E3 12.47%,E3/E3 66.80%,E3/E4 16.50%,E2/E4 2.01%,E4/E4 1.21%,the group of good curative effect 13.48%,the group of normal curative effect 68.81% and the group of bad curative effect 17.71 %.SLCO1B1 genotype frequency:*1a/*1a 6.24%,*1a/*1b 30.18%,*1b/*1b 42.66%,*1a/*15 3.02%,*1b/*15 16.10%*15/*15 1.81%;The distribution of SLCO1B1 genotype in good efficacy group,normal group and poor group was similar,there is no significant difference.In good efficacy group,normal risk genotype accounted for 82.09%,medium risk genotype accounted for 17.91%,high risk genotypes for 0%.Normal risk genotype accounted for 78.95%,moderate risk genotype accounted for 18.72%,higher risk genotype accounted for 2.33% in normal efficacy group.Normal risk genotype accounted for 75.00%,moderate risk genotype accounted for 23.87%,high risk genotype only
作者
陈敏
段泰豪
李勤琴
邓少丽
陈鸣
唱凯
CHEN Min;DUAN Taihao;LI Qingqing;DENG Shaoli;CHEN Ming;CHANG Kai(Department of Clinical Laboratory,the Third Affiliated Hospital of theArmy Medical University,Chongqing 400042,China)
出处
《国际检验医学杂志》
CAS
2019年第14期1750-1753,1758,共5页
International Journal of Laboratory Medicine
