Association between tau H2 haplotype and age at onset in frontotemporal dementia
Association between tau H2 haplotype and age at onset in frontotemporal dementia
复制标题
DOI：
10.1001/archneur.62.9.1419
复制
发表时间：
2005-09-01
影响因子：
--
通讯作者：
Spillantini, MG
中科院分区：
文献类型：
--
作者：
Borroni, B;Yancopoulou, D;Spillantini, MG
背景资料：额颞叶痴呆（FTD）综合征与微管相关tau蛋白相关，因为tau基因突变已被证明是FTD和帕金森综合征的原因。与17号染色体相连然而，在没有tau基因突变的FTD病例中，尚不清楚tau基因的遗传变异是否与FTD的发生或调节相关。目的：确定tau和载脂蛋白E（ApoE）的遗传变异是否调节和促进FTD的发生。设计和患者：在86例特征明确的FTD患者和50例对照受试者中研究了tau基因单倍型和ApoE基因型的分布。在FTD病例和对照组之间未观察到tau H1和H2单倍型的分布差异，而ApoE ε 4等位基因在FTD病例中更常见。的.发现存在至少1个tau H2等位基因与FTD患者的较早发病年龄显著相关。H2等位基因和发病年龄之间的关联是不相关的家族史，临床表现，或ApoE genotype.Conclusion：这些研究结果支持tau蛋白在调节疾病表型的作用，通过影响发病年龄在这些FTD的情况下。
Background: The frontotemporal dementia (FTD) syndromes have been associated with the microtubule-associated tau protein since tau gene mutations have been demonstrated to be the cause of FTD and parkinsonism. linked to chromosome 17. In cases of FTD without tau gene mutations, however, it is unclear whether genetic variability in the tau gene is associated with the development or modulation of FTD.Objective: To determine whether genetic variability in tau and apolipoprotein E (ApoE) modulates and contributes to the development of FTD.Design and Patients: The distribution of tau gene haplotypes and the ApoE genotype were investigated in 86 patients with well-characterized FTD and 50 control subjects.Results: No difference in the distribution of the tau H1 and H2 haplotypes between FTD cases and controls was observed, whereas the ApoE epsilon 4 allele was more frequent in FTD cases. The. presence of at least 1 tau H2 allele was found to be significantly associated with an earlier age of onset in patients with FTD. The association between the H2 allele and age at onset was not related to family history, clinical presentation, or ApoE genotype.Conclusion: These findings support a role of tau protein in modulating disease phenotype by influencing the age at onset in these FTD cases.