载脂蛋白E基因多态性与心脑血管疾病的相关性

Correlation between ApoE gene polymorphism and cardio-cerebrovascular diseases

目的探讨载脂蛋白E(Apo E)基因多态性在常见心脑血管的发生发展中所起的作用。方法应用基因芯片方法检测1 427例心脑血管疾病患者和450例健康体检者的Apo E基因型,并比较Apo E不同表型患者血脂水平。结果病例组和对照组Apo E基因型均以ε3/3频率最高;ApoE等位基因频率从高到低依次为ε3、ε2和ε4;其中病例组ε3/3基因型低于对照组(χ~2=12.562,P<0.01),而ε3/4基因型高于对照组(χ~2=27.442,P<0.01),病例组ε3等位基因频率低于对照组(χ~2=12.406,P<0.01),而ε4基因频率高于对照组(χ~2=36.112,P<0.01);病例组各组间的ApoE基因型和等位基因频率之间差异无统计学意义(P>0.05)。病例组TCH、TG、LDL-c和sd LDL均显著高于对照组,HDL-c显著降低,差异具有统计学意义(P<0.05);E2型患者TCH及LDL-c水平显著降低(P<0.05),而E4型患者TCH及LDL-c水平显著升高(P<0.05),其余指标未发现显著差异(P>0.05);ApoE基因型及ApoE表型均与LDL-c水平呈正相关(P<0.01)。结论 ApoE基因多态性在心脑血管疾病的发生发展中起着重要的作用。

Objective To investigate the correlation between apolipoprotein E gene polymorphism and cardio-cerebrovascular diseases.Methods Gene chip method was used to determine ApoE genotypes in 1427 patients with cardiovascular disease and 450 health controls.Levels of serum lipid were compared.Results The highest genotype frequency of Apo E was ε3/3 in the patient group and control group.The allele frequency of ApoE from high to low was ε3,ε2 and ε4.The genotype of ε3/3 in patient group was significantly lower than that in control group（χ~2=12.562,P〈0.01）,while ε3/4 was significantly higher than that in control group（χ~2=36.112,P〈0.01）.No significant differences were found between patient groups in genotype or allele frequency of Apo E.The level of TCH,TG,LDL-c and sd LDL in the patient group were significantly higher than those in the control group,and HDL-c was significantly lower than those in the control group（P〈0.05）.The level of TCH and LDL-c significantly decreased in patients with E2 genotype,and increased in patients with genotype E4（P〈0.05）.No significant differences were found in other indexes（P〈0.05）.Positive relationship was found between ApoE genotype and phenotype of ApoE and LDL-c.Conclusions Apo E gene polymorphism plays an important role in the occurrence and development of cardio-cerebrovascular diseases.