Association study between ApoE genetic polymorphism and vascular dementia after cerebral infarction
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摘要: 目的 研究ApoE基因多态性在脑梗死后血管性痴呆(vascular dementia,VD)中的分布及其对该病潜伏期和严重程度的影响。 方法 对2015年1月-2016年12月期间杭州市第七人民医院收治的额颞叶脑梗死患者进行Hachinski缺血指数、简易智能量表(MMSE)评定,将Hachinski指数 ≥ 7且MMSE ≤ 24者入组为VD组(79例),同时收集健康对照80例。收集VD患者首次脑梗死至首诊为VD的时间间隔,作为潜伏期;MMSE得分作为其严重程度的指标,同时采集血液,使用PCR法测定ApoE基因多态性。采用χ2检验比较VD组和对照组之间各基因型的分布差异,使用成组t检验比较2组间潜伏期和MMSE得分差异。 结果 VD组ε4等位基因频率[30.38%(48/158)]与ε4基因型频率[45.57%(36/79)]明显高于对照组的15.62%(25/160)和28.75%(23/80) (P=0.002和0.028),ε3等位基因频率[60.76%(96/158)]与ε3基因型频率[45.57%(36/79)]显著低于对照组的77.50%(124/160)和61.25%(49/80),差异有统计学意义(P=0.001和0.047),2组间ε2比较差异无统计学意义(P>0.05)。ApoE ε4基因型患者在脑梗死后发生VD的潜伏期[(13.44±6.00)个月]显著短于ε2基因型[(22.43±9.01)个月],差异有统计学意义(P=0.003),而各基因型间MMSE得分差异无统计学意义(P>0.05)。 结论 ApoE ε4基因可能是脑梗死后VD组的易感基因且能缩短VD的潜伏期。Abstract: Objective To study the distribution of ApoE genetic polymorphism and its influence on the latency and severity of vascular dementia after cerebral infarction. Methods Hachinski Inchemic Score Test and Mini Mental State Examination (MMSE) were performed to test the frontotemporal cerebral infarction patients. Those with Hachinski ≥ 7 and MMSE ≤ 24 were recruited in the VD group. Meanwhile, the healthy controls were included. The intervals from first episode of cerebral infarction to first diagnosis of VD were obtained and considered as the latency. MMSE scores were used as the index of severity. Blood samples from all subjects were collected for ApoE genetic polymorphism test by PCR. Chi-square test was used to compare the distributions of ApoE genetic polymorphism and student t-test was performed to analyze the difference of latency and MMSE scores between the VD group and the control group. Results The VD group had obviously higher ε4 allele frequency (30.38%, 48/158) and ε4 genotype frequency (45.57%, 36/79) as compared to those of the control group (15.62%, 25/160; 28.75%, 23/80) (P=0.002 and 0.028). ApoE ε3 allele frequency (60.76%, 96/158) and ε3 genotype frequency (45.57%, 36/79) were significant lower in the VD group as compared with the control group (77.50%, 124/160; 61.25%, 49/80, P=0.001 and 0.047). No significant difference was observed in ε2 allele and genotype frequency between the two groups. VD patients with ε4 genotype had an obviously shorter mean latency after first-onset of cerebral infarction[(13.44±6.00) months] as compared with ε2 genotype[(22.43±9.01) months] (P=0.003). However, there was no significant difference in the severity of VD among three genotypes (P>0.05). Conclusion ApoE ε4 genotype may be associated with the susceptibility of VD and it may shorten the latency of VD after cerebral infarction.
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Key words:
- ApoE polymorphism /
- Cerebral infarction /
- Vascular dementia /
- Latency /
- Severity
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