挪威人群中BACE1基因多态性与帕金森病的关联
Association of a BACE1 Gene Polymorphism with Parkinson's Disease in a Norwegian Population.
作者信息
Lange Johannes, Lunde Kristin Aaser, Sletten Camilla, Møller Simon Geir, Tysnes Ole-Bjørn, Alves Guido, Larsen Jan Petter, Maple-Grødem Jodi
机构信息
The Norwegian Centre for Movement Disorders, Stavanger University Hospital, 4011 Stavanger, Norway.
The Norwegian Centre for Movement Disorders, Stavanger University Hospital, 4011 Stavanger, Norway; Centre for Organelle Research, University of Stavanger, 4036 Stavanger, Norway.
出版信息
Parkinsons Dis. 2015;2015:973298. doi: 10.1155/2015/973298. Epub 2015 Dec 14.
Background. Parkinson's disease (PD) and Alzheimer's disease (AD) share pathological features, including amyloid-beta pathology. Amyloid-beta peptide is generated by sequential proteolysis of amyloid precursor protein (APP), and genetic variations in the processing pathway genes have been found to increase the risk of AD; however, the contribution in PD is unknown. Methods. The aim of this study was to investigate whether candidate polymorphisms in five genes (ADAM10, BACE1, BACE2, PSEN2, and CLU) involved in the APP processing pathway affect PD risk in a population-based cohort of patients with incident PD and control subjects from the Norwegian ParkWest study. Results. We found an association of rs638405 in BACE1 with increased risk of PD, thus providing a novel link, at the genetic level, between amyloid-beta pathology and PD.
背景。帕金森病（PD）和阿尔茨海默病（AD）具有共同的病理特征，包括β-淀粉样蛋白病理。β-淀粉样肽由淀粉样前体蛋白（APP）的顺序蛋白水解产生，并且已发现加工途径基因中的遗传变异会增加患AD的风险；然而，其在PD中的作用尚不清楚。方法。本研究的目的是调查参与APP加工途径的五个基因（ADAM10、BACE1、BACE2、PSEN2和CLU）中的候选多态性是否会影响来自挪威ParkWest研究的新发PD患者和对照受试者的基于人群队列中的PD风险。结果。我们发现BACE1中的rs638405与PD风险增加相关，从而在基因水平上为β-淀粉样蛋白病理与PD之间提供了新的联系。
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