Hernandez, DG;
Nalls, MA;
Ylikotila, P;
Keller, M;
Hardy, JA;
Majamaa, K;
Singleton, AB;
(2012)
Genome Wide Assessment of Young Onset Parkinson's Disease from Finland.
PLOS ONE
, 7
(7)
, Article e41859. 10.1371/journal.pone.0041859.
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Abstract
In the current study we undertook a series of experiments to test the hypothesis that a monogenic cause of disease may be detectable within a cohort of Finnish young onset Parkinson’s disease patients. In the first instance we performed standard genome wide association analyses, and subsequent risk profile analysis. In addition we performed a series of analyses that involved testing measures of global relatedness within the cases compared to controls, searching for excess homozygosity in the cases, and examining the cases for signs of excess local genomic relatedness using a sliding window approach. This work suggested that the previously identified common, low risk alleles, and the risk models associated with these alleles, were generalizable to the Finnish Parkinson’s disease population. However, we found no evidence that would suggest a single common high penetrance mutation exists in this cohort of young onset patients.
| Type: | Article |
|---|---|
| Title: | Genome Wide Assessment of Young Onset Parkinson's Disease from Finland |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1371/journal.pone.0041859 |
| Publisher version: | http://dx.doi.org/10.1371/journal.pone.0041859 |
| Additional information: | This is an open-access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication. This work was supported by a grant from the Michael J. Fox Foundation for Parkinson’s Disease Research through the 2009 Rapid Response Innovation Award program. This work was also supported by the Intramural Research Program of the National Institute on Aging, National Institutes of Health, Department of Health and Human Services; project Z01 AG000949-06. This work was supported by grants from the Academy of Finland (project number 127764) and The Finnish Parkinson Foundation. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1359373 |
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