ApolipoproteinE gene polymorphism in frontotemporal dementia in Japan

许多先前的报告显示载脂蛋白E (ApoE) epsilon 4等位基因与阿尔茨海默病（AD）发病风险增加之间存在关系。一些研究也报道了ApoE epsilon 4等位基因与额颞叶痴呆（FTD）之间的关系，而其他研究则未能显示任何此类关联。因此，ApoE ε 4等位基因与FTD之间的关系仍然存在争议。因此，我们分析了日本FTD患者的ApoE基因型。对象和方法：我们按照Hixson et al.和Wenham et al.的方案，采用聚合酶链反应（PCR）和限制性片段长度多态性（RFLP）对30例FTD患者、35例AD患者和31例正常人的ApoE基因型进行分析。临床根据NINCDS-ADRDA AD标准和Lund和Manchester组FTD标准进行诊断。我们通过统计等位基因和计算样本比例来确定每组的等位基因频率。等位基因频率的组间差异采用chi^2检验分析。结果：ApoE epsilon 4等位基因在FTD、AD和对照组中的频率分别为7/60（11.7%）、23/70（32.8%）和2-62（3.2%）。chi^2检验显示，ApoE epsilon 4等位基因频率在FTD和对照组之间无显著差异（p=0.0746），而同样的检验显示ApoE epsilon 4等位基因频率在FTD和AD之间有显著差异（p=0.0070）。结论：ApoE epsilon 4等位基因与日本人FTD之间不存在明显的相关性。

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.