Literature DB >> 26260214

Variation in PARK10 is not associated with risk and age at onset of Parkinson's disease in large clinical cohorts.

Javier Simón-Sánchez1, Peter Heutink2, Thomas Gasser2.   

Abstract

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.
Copyright © 2015 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  NeuroX; Neurogenetics; PARK10; Parkinson's disease; Whole exome sequencing

Mesh:

Year:  2015        PMID: 26260214      PMCID: PMC8978882          DOI: 10.1016/j.neurobiolaging.2015.07.008

Source DB:  PubMed          Journal:  Neurobiol Aging        ISSN: 0197-4580            Impact factor:   4.673


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Journal:  Neurobiol Aging       Date:  2014-08-04       Impact factor: 4.673

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Authors:  Mike A Nalls; Nathan Pankratz; Christina M Lill; Chuong B Do; Dena G Hernandez; Mohamad Saad; Anita L DeStefano; Eleanna Kara; Jose Bras; Manu Sharma; Claudia Schulte; Margaux F Keller; Sampath Arepalli; Christopher Letson; Connor Edsall; Hreinn Stefansson; Xinmin Liu; Hannah Pliner; Joseph H Lee; Rong Cheng; M Arfan Ikram; John P A Ioannidis; Georgios M Hadjigeorgiou; Joshua C Bis; Maria Martinez; Joel S Perlmutter; Alison Goate; Karen Marder; Brian Fiske; Margaret Sutherland; Georgia Xiromerisiou; Richard H Myers; Lorraine N Clark; Kari Stefansson; John A Hardy; Peter Heutink; Honglei Chen; Nicholas W Wood; Henry Houlden; Haydeh Payami; Alexis Brice; William K Scott; Thomas Gasser; Lars Bertram; Nicholas Eriksson; Tatiana Foroud; Andrew B Singleton
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10.  Predicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies.

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