Papassotiropoulos A, Bagli M, Becker K, Jessen F, Maier W, Rao M L, Ludwig M, Heun R
Department of Psychiatry Research, University of Zurich, CH-8029 Zurich, Switzerland.
Int J Mol Med. 2000 Nov;6(5):587-9. doi: 10.3892/ijmm.6.5.587.
The cleavage of the amyloid precursor protein (APP) into amyloidogenic components (Abeta) is a central event in the pathogenesis of Alzheimer's disease (AD). FE65 is a protein that is involved in APP metabolism and may facilitate the production of Abeta. Recently, an intronic polymorphism of the gene encoding FE65 (FE65) was associated with altered risk for the development of sporadic AD. In our sample of 102 AD patients and 351 non-demented controls we did not replicate the association between FE65 and AD. Moreover, we observed no risk-modifying interaction and no linkage disequilibrium between FE65 and the gene encoding the acid protease cathepsin D (catD), which - like FE65 - is involved in APP metabolism and is also located on chromosome 11p15. We conclude that, whereas FE65 is implicated in AD pathology, the gene encoding FE65 does not appear to confer a substantial risk for AD.
淀粉样前体蛋白（APP）裂解为淀粉样生成成分（Aβ）是阿尔茨海默病（AD）发病机制中的核心事件。FE65是一种参与APP代谢的蛋白质，可能促进Aβ的产生。最近，编码FE65的基因（FE65）的内含子多态性与散发性AD发病风险的改变有关。在我们的102例AD患者和351例非痴呆对照样本中，我们没有重现FE65与AD之间的关联。此外，我们没有观察到FE65与编码酸性蛋白酶组织蛋白酶D（catD）的基因之间存在风险修饰相互作用和连锁不平衡，catD与FE65一样参与APP代谢，也位于11号染色体p15区域。我们得出结论，虽然FE65与AD病理学有关，但编码FE65的基因似乎不会给AD带来实质性风险。
