ApoE基因型与颈动脉粥样硬化及脑梗死的相关性研究

  目的  探讨人类载脂蛋白E(apolipoprotein e，ApoE)基因型与颈动脉粥样斑块稳定性、位置分布及脑梗死的相关性。  方法  随机选取南京医科大学第二附属医院2019年1月1日—12月31日期间275名行颈动脉B超、ApoE基因检测、血脂检测及头颅核磁共振的住院患者进行分析，根据颈动脉B超检查分为对照组88例、稳定斑块组71例和不稳定斑块组116例，将颈动脉粥样硬化(carotid atherosclerosis, CAS)患者分为脑梗死组和无脑梗死组进行研究分析。  结果  (1) 人群中ε2基因频率为10.7%，ε3为78.2%，ε4为11.1%。(2)不稳定斑块组与对照组相比，基因型分布差异有统计学意义(P=0.008)，与ε3/ε3基因型相比，ε3/ε4(OR=3.115，95% CI:1.314~7.388)更易导致不稳定斑块。(3)ApoE基因型与颈动脉斑块位置无明显关系(χ2=3.190，P=0.527)。(4)在已发生CAS患者中，与非ε2携带者比较，ε2携带者(χ2=4.285，P=0.038)不易发生脑梗死。(5)在CAS患者中，调整年龄、性别、高血压、糖尿病因素后，ε2等位基因是脑梗死的保护因素(P=0.023, OR=0.352，95% CI:0.144~0.865)。  结论  基因型ε3/ε4可能是导致患者颈动脉不稳定性粥样斑块形成的危险因素, ApoE基因型与颈动脉粥样硬化性斑块的分布位置无关。ε2等位基因是已发生CAS的患者发生脑梗死的保护因素。 

Correlation between ApoE genotype and carotid atherosclerosis and cerebral infarction

  Objective  To study the correlation between apolipoprotein E (ApoE) genotype and the stability and location of carotid atherosclerotic plaque and cerebral infarction.  Methods  Total 275 patients from the Second Affiliated Hospital of Nanjing Medical University from January 1, 2019 to December 31, 2019 were divided into three groups according to the results of carotid ultrasound examinations: control group (88 cases), stable plaque group (71 cases) and unstable plaque group (116 cases). The ApoE genotype and blood lipid were determined. Patients with carotid atherosclerosis were inspected using head MRI. CAS patients were divided into the cerebral infarction group and no cerebral infarction group according to the MRI results.  Results  (1) The frequencies of ε2, ε3 and ε4 genes in the population were 10.7%, 78.2% and 11.1%, respectively, which conform to the law of genetic balance. (2) Significant differences were observed in the genotype distribution (P=0.008) between the unstable plaque group and the control group, and ε3/ε4 genotype (OR=3.115, 95% CI: 1.314-7.388) was more likely to lead to unstable plaques than the ε3/ε3 genotype. (3) The ApoE genotype had no significant relationship with the location of carotid plaque (χ2=3.190, P=0.527). (4) ε2 carriers (χ2=4.285, P=0.038) were less likely to have cerebral infarction than non- ε2 carriers with carotid atherosclerosis. (5) The ε2 allele was a protective factor for cerebral infarction in CAS patients after adjusting for age, sex, hypertension and diabetes (P=0.023, OR=0.352, 95% CI: 0.144-0.865).  Conclusion  The ε3/ε4 genotype may be a risk factor for the formation of unstable carotid atherosclerotic plaque. The ApoE genotype is not related to the location of carotid atherosclerotic plaque. The ε2 allele is a protective factor for cerebral infarction in CAS patients.