Chen Deng, Zhang Jun-Wu, Zhang Zhen-Xin, Zhao Hua-Lu, Li Xiao-Qing, Wu Ya-Ning, Qu Qiu-Ming
National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, CAMS & PUMC, Beijing 100005, China.
Yi Chuan Xue Bao. 2003 Dec;30(12):1167-70.
PCR-RFLP was used to investigate the distribution differences of apolipoprotein E (APOE) alleles and genotypes between sporadic Alzheimer disease (AD) patients (n = 160) and healthy control individuals (n = 195) in Chinese Han population. The results showed that the allelic frequencies of APOE epsilon 2, epsilon 3 and epsilon 4 were 0.056, 0.713 and 0.231 in AD group respectively, and 0.082, 0.844 and 0.074 in control group respectively. The frequency of epsilon 4 allele was significantly higher in AD cases than in control subjects and epsilon 4 allele was associated with AD by an odds ratio (OR) of 3.82 (chi 2 = 28.70, P < 0.001). The probability for APOE epsilon 4-carriers to suffer from AD after 65 years old was 5.38 times of that for APOE epsilon 4 non-carriers (chi 2 = 29.76, P < 0.001), suggesting that age might affect the interaction between APOE epsilon 4 and AD. In addition, our results showed that the distributions of APOE alleles and genotypes were comparable among mild, moderate and severe dementia patients (P > 0.05), suggesting that APOE gene polymorphism was not likely to contribute to dementia severity of AD patients. The frequency of APOE epsilon 4 genotype in female patients was higher than that in male patients(43.0% vs. 36.5%) and females carrying APOE epsilon 4 allele had higher OR value than corresponding males (4.3 vs. 3.3), but the differences were not statistically significant (P > 0.05). As to epsilon 2 allele, its frequency was significantly lower in male subgroup than in female subgroup of AD patients and also than in male subgroup of normal control (P < 0.05), suggesting that epsilon 2 allele was possibly an AD protective factor in Chinese male population.
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法，研究中国汉族人群中散发性阿尔茨海默病（AD）患者（n = 160）与健康对照者（n = 195）之间载脂蛋白E（APOE）等位基因和基因型的分布差异。结果显示，AD组中APOE ε2、ε3和ε4等位基因频率分别为0.056、0.713和0.231，对照组中分别为0.082、0.844和0.074。AD患者中ε4等位基因频率显著高于对照组，ε4等位基因与AD相关，优势比（OR）为3.82（χ2 = 28.70，P < 0.001）。65岁后携带APOE ε4的个体患AD的概率是不携带APOE ε4个体的5.38倍（χ2 = 29.76，P < 0.001），提示年龄可能影响APOE ε4与AD之间的相互作用。此外，结果表明，轻度、中度和重度痴呆患者中APOE等位基因和基因型的分布具有可比性（P > 0.05），提示APOE基因多态性不太可能影响AD患者的痴呆严重程度。女性患者中APOE ε4基因型频率高于男性患者（43.0% 对36.5%），携带APOE ε4等位基因的女性OR值高于相应男性（4.3对3.3），但差异无统计学意义（P > 0.05）。对于ε2等位基因，其频率在AD患者男性亚组中显著低于女性亚组，也低于正常对照男性亚组（P < 0.05），提示ε2等位基因可能是中国男性人群中的AD保护因子。
