Effect of MAPT and APOE on prognosis of progressive supranuclear palsy
Effect of MAPT and APOE on prognosis of progressive supranuclear palsy
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DOI：
10.1016/j.neulet.2006.06.032
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发表时间：
2006-09-11
影响因子：
2.5
通讯作者：
Dickson, Dennis W.
中科院分区：
文献类型：
--
作者：
Baba, Yasuhiko;Putzke, John D.;Dickson, Dennis W.
为探讨遗传因素对进行性核上性麻痹(PSP)临床表现的影响，对58例经病理证实的PSP患者进行了tau基因(MAPT)和载脂蛋白E(APOE)基因变异对病程的遗传影响。病程的临床指标包括出现症状的年龄(AAO)、死亡年龄(AAD)和病程(DD)，所检测的遗传效应包括MAPT单倍型和APOE基因型。直线回归分析显示，MAPTH1/H1基因型与AAO发病时间显著相关(P=0.038)。MAPT基因对DD或AAD无显著影响。APOE epsilon 4等位基因对AAO、AAD或DD无显著影响。男性是早期腹主动脉闭塞的预测因子(P=0.015)。在AAD和DD中，MAPT和APOE之间的交互作用不显著，但在AAO中发现显著的负相关，表明它们的组合不存在相加效应。这些结果支持了H1/H1基因可能与临床症状的早期发生有关的断言。(C)2006爱思唯尔爱尔兰有限公司。保留所有权利。
To assess genetic influence on the clinical presentation of progressive supranuclear palsy (PSP), the genetic effect on disease course was examined for variants in the tau gene (MAPT) and the gene for apolipoprotein E (APOE) in 58 cases of pathologically confirmed PSP. Clinical indicators of disease course included age at symptomatic onset (AAO), age at death (AAD), and disease duration (DD) and the genetic effects examined included MAPT haplotypes and APOE genotypes. From linear regression analysis, the MAPT H1/H1 genotype was associated with significantly earlier AAO (P = 0.038). The MAPT genotype did not significantly influence DD or AAD. The APOE epsilon 4 allele did not significantly influence AAO, AAD, or DD. Male sex was a predictor for earlier AAO (P=0.015). The interaction between MAPT and APOE was not significant for AAD and DD, but a significant negative coefficient was found for AAO suggesting their combination does not have an additive effect. These results support the assertion that the H1/H1 genotype may contribute to the earlier occurrence of clinical symptoms. (c) 2006 Elsevier Ireland Ltd. All rights reserved.