ApolipoproteinE gene polymorphism in frontotemporal dementia in Japan

前言：许多已有报道表明载脂蛋白E(ApoE)epsilon 4等位基因与阿尔茨海默病(AD)发病风险增加有关。一些研究也报道了ApoE epsilon 4等位基因与额颞痴呆(FTD)的关系，而其他研究没有显示出任何这种联系。因此，ApoE epsilon 4等位基因与FTD之间的关系仍然存在争议。因此，我们对日本FTD患者的ApoE基因进行了分析。对象和方法：采用聚合酶链式反应(PCR)和限制性片段长度多态性(RFLP)方法，对30例FTD患者、35例AD患者和31例正常人的ApoE基因进行分析。和温汉姆等人。按NINCDS-ADRDA AD诊断标准、Lund和曼彻斯特组FTD诊断标准进行诊断。通过计算等位基因和计算样本比例，确定各组的等位基因频率。结果：ApoE epsilon 4等位基因频率在FTD组为7/60(11.7%)，AD组为23/70(32.8%)，对照组为2~62(3.2%)。经卡方检验，日本汉族人群中载脂蛋白E epsilon 4等位基因频率与对照组比较差异无统计学意义(p=0.0746)，而载脂蛋白E epsilon 4等位基因频率在两组间差异有统计学意义(p=0.0070)。结论：日本人群载脂蛋白E epsilon 4等位基因频率与日本人群无明显关联。

Introduction : Many previous reports have shown a relationship between the apolipoprotein E (ApoE) epsilon 4 allele and an increased risk of developing Alzheimer's disease (AD). Some studies have also reported a relationship between ApoE epsilon 4 allele and frontotemporal dementia (FTD), while others have failed to show any such association. The relationship between the ApoE epsilon 4 allele and FTD thus remains controversial. As aresult, we analyzed the ApoE genotype in patients with FTD in Japan.Subjects and methods : We analyzed the ApoE genotypes in 30 patients with FTD,35 patients with AD and 31 normal subjects using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) according to the protocol of Hixson et al. and Wenham et al. The diagnosis was made clinically according to the NINCDS-ADRDA criteria for AD and the Lund and Manchester Groups criteria for FTD.We determined the allelic frequencies for each group by counting the alleles and calculating the sample proportions. Group differences in the allelic frequencies were analyzed by the chi^2 test.Results : The frequencies of the ApoE epsilon 4 allele in FTD,AD and the control were 7/60 (11.7%), 23/70 (32.8%) and 2-62 (3.2%), respectively. The chi^2 test showed no significant difference in the ApoE epsilon 4 allele frequency between FTD and the control (p=0.0746), while that the same test did show a significant difference in the ApoE epsilon 4 allele frequency between FTD and AD (p=0.0070).Conclusion : These results indicate that no association apparently exists between the ApoE epsilon 4 allele and FTD in Japan.