关键词: 河北, 汉族, ApoE基因, 基因多态性, 临床诊断 

Abstract: Objective  To analyze the distribution and clinical characteristics of apolipoprotein E(ApoE) gene polymorphism in Hebei Han population. Methods  A total of 4 641 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 (excluding ε2/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 ApoE ε3 allele, the carriers of ε4 allele were associated with Alzheimer's disease, myocardial infarction,  hyperlipidemia and elevated levels of triglyceride, total cholesterol, low density lipoprotein cholesterol and lipoprotein a.

Key words: Hebei, Han nationality, ApoE gene,  gene polymorphism, clinical diagnosis