Department of Neurology, Beijing Luhe Hospital, Capital Medical University , Beijing, China.
Department of Neurosurgery, Wayne State University School of Medicine , Detroit, MI, USA.
Neurol Res. 2020 Aug;42(8):676-682. doi: 10.1080/01616412.2020.1782130. Epub 2020 Jul 7.
To assess the correlation between objectively measured cognitive function and apolipoprotein E polymorphism within one geographic region.
61 patients, aged 55-90 years old, were enrolled in a memory clinic at the Beijing Luhe Hospital affiliated with Capital Medical University from September 2016 to September 2018. At this center, they were evaluated with neuropsychological scales to assess their memory and other aspects of cognitive function. Specific gene segments were extracted from venous blood by PCR amplification, and ApoE genotyping was carried out by chip hybridization.
Among all patients, 0 had the genotype ε2/2, 7 had the genotype ε2/3, 0 had the genotype ε2/4, 40 had the genotype ε3/3, 12 had the genotype ε3/4, and 2 had the genotype ε4/4. The allele frequency ε2 accounted for 5.74%, ε3 accounted for 81.15% and ε4 accounted for 13.11%. The Mini-Mental State Examination (MMSE) scores of ε4 carriers (18.14 ± 0.39) were significantly lower than those of non-ε4 carriers (23.77 ± 6.29) (P < 0.05), and the Montreal Cognitive Assessment (MoCA) scores of ε4 carriers (14.36 ± 7.56) were also significantly lower than those of non-ε4 carriers (20.55 ± 8.08) (P < 0.05).
The rate of the ε3/3 homozygous genotype was the highest, followed by the rates of the ε3/4 and ε2/3 genotypes. The rates of the ε2/4, ε4/4, and ε2/2 genotypes were the lowest. Deficits in memory and other cognitive processes were significantly more pronounced in ε4 carriers than in non-ε4 carriers.
评估在同一地理区域内，客观测量的认知功能与载脂蛋白 E 多态性之间的相关性。
2016 年 9 月至 2018 年 9 月，我们在北京潞河医院记忆门诊招募了 61 名年龄在 55-90 岁的患者。在该中心，我们使用神经心理学量表评估他们的记忆和其他认知功能。通过聚合酶链反应（PCR）扩增从静脉血中提取特定的基因片段，并通过芯片杂交进行载脂蛋白 E 基因分型。
所有患者中，基因型为 ε2/2 的 0 人，基因型为 ε2/3 的 7 人，基因型为 ε2/4 的 0 人，基因型为 ε3/3 的 40 人，基因型为 ε3/4 的 12 人，基因型为 ε4/4 的 2 人。等位基因频率 ε2 占 5.74%，ε3 占 81.15%，ε4 占 13.11%。ε4 携带者的简易精神状态检查（MMSE）评分（18.14 ± 0.39）明显低于非 ε4 携带者（23.77 ± 6.29）（P < 0.05），而 ε4 携带者的蒙特利尔认知评估（MoCA）评分（14.36 ± 7.56）也明显低于非 ε4 携带者（20.55 ± 8.08）（P < 0.05）。
ε3/3 纯合基因型的发生率最高，其次是 ε3/4 和 ε2/3 基因型。ε2/4、ε4/4 和 ε2/2 基因型的发生率最低。ε4 携带者在记忆和其他认知过程中的缺陷明显比非 ε4 携带者更为明显。
