期刊论文详细信息
NEUROBIOLOGY OF AGING 卷:36
Variation in PARK10 is not associated with risk and age at onset of Parkinson's disease in large clinical cohorts
Article
Simon-Sanchez, Javier1,2  Heutink, Peter3,4  Gasser, Thomas3,4 
[1] Univ Tubingen, Hertie Inst Clin Brain Res, Genet & Epigenet Neurodegenerat, Tubingen, Germany
[2] German Ctr Neurodegenerat Dis DZNE Tubingen, Genet & Epigenet Neurodegenerat, Tubingen, Germany
[3] Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, Tubingen, Germany
[4] German Ctr Neurodegenerat Dis DZNE Tubingen, Genome Biol Neurodegenerat Dis, Tubingen, Germany
关键词: Parkinson's disease;    PARK10;    Whole exome sequencing;    NeuroX;    Neurogenetics;   
DOI  :  10.1016/j.neurobiolaging.2015.07.008
来源: Elsevier
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【 摘 要 】

A recent study in autopsy-confirmed Parkinson's disease (PD) patients and controls revived the debate about the role of PARK10 in this disorder. In an attempt to replicate these results and further understand the role of this locus in the risk and age at onset of PD, we decided to explore NeuroX genotyping and whole exome sequencing data from 2 large independent cohorts of clinical patients and controls from the International Parkinson's Disease Genomic Consortium. A series of single-variant and gene-based aggregation (sequence kernel association test and combined multivariate and collapsing test) statistical tests suggested that common and rare genetic variation in this locus do not influence the risk or age at onset of clinical PD. (C) 2015 Elsevier Inc. All rights reserved.

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