河北汉族ApoE基因多态性与心脑血管疾病的相关性

Association between ApoE gene polymorphism and cardiovascular and cerebrovascular diseases in Hebei Han nationality

目的分析河北地区汉族人群载脂蛋白E(apolipoprotein E,ApoE)基因多态性及其与心脑血管疾病相关指标的临床特点。方法以2018年6月至2019年10月于河北医科大学第一医院就诊的4641例住院患者为研究对象,利用聚合酶链反应(polymerase chain reaction,PCR)-荧光探针技术检测患者外周全血基因组中ApoE基因,根据ApoE基因型(不包括ε2/ε4型)将其分为E2组(ε2/ε2+ε2/ε3基因型)、E3组(ε3/ε3基因型)、E4组(ε3/ε4+ε4/ε4基因型),回顾性分析3组间的ApoE基因多态性分布特点,比较3组间年龄、性别、临床诊断与合并症、部分生化指标检测结果的差异性。结果E4组患者阿尔茨海默病、心肌梗死、高脂血症的患病率高于E2和E3组患者,其差异有统计学意义(P<0.05);血液生化指标检测显示ApoE基因E4组患者三酰甘油、总胆固醇、低密度脂蛋白胆固醇、脂蛋白a数值高于E2和E3组患者,其差异有统计学意义,P<0.05;高密度脂蛋白胆固醇、空腹血糖、肌酸激酶、尿酸、同型半胱氨酸数值与E2和E3组患者相比差异无统计学意义。结论与ApoEε3等位基因纯合子相比,ε4等位基因携带者与阿尔茨海默病、心肌梗死、高脂血症患病率及三酰甘油、总胆固醇、低密度脂蛋白胆固醇、脂蛋白a浓度升高相关。

Objective To analyze the distribution and clinical characteristics of apolipoprotein E(ApoE)gene polymorphism in Hebei Han population.Methods A total of 4641 inpatients who visited the First Hospital of Hebei Medical University from June 2018 to October 2019 were taken as the research object.Polymerase chain reaction(PCR)-fluorescent probe technology was used to detect the ApoE gene in the peripheral whole blood genome of patients.According to the ApoE genotype(excludingε2/ε4),we divided the patients into E2 groups(ε2/ε2+ε2/ε3),E3 group(ε3/ε3)and E4 group(ε3/ε4+ε4/ε4),retrospectively analyze the distribution characteristics of ApoE gene polymorphism among the three groups,and compare the differences among the three groups in age,sex,clinical diagnosis and complications,hematological and biochemical indicators,carotid artery color ultrasound,and brain magnetic resonance angiography.Results The incidence of Alzheimer s disease,myocardial infarction,hyperlipidemia in E4 group was significantly higher than that in E2 and E3 groups(P<0.05).The detection of some hematological biochemical indexes showed that the values of triglyceride,total cholesterol,low-density lipoprotein cholesterol and lipoprotein a in ApoE gene E4 group were significantly higher than those in E2 and E3 groups,and the difference was statistically significant(P<0.05).There was no significant difference in the values of high density lipoprotein,fasting blood glucose,creatine kinase,uric acid,homocysteine between E2 and E3 groups.Conclusions Compared with the homozygote of ApoEε3 allele,the carriers ofε4 allele were associated with Alzheimer s disease,myocardial infarction,hyperlipidemia and elevated levels of triglyceride,total cholesterol,low density lipoprotein cholesterol and lipoprotein a.