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Genome Wide Assessment of Young Onset Parkinson’s Disease from Finland

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...

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Autores principales: Hernandez, Dena G., Nalls, Michael A., Ylikotila, Pauli, Keller, Margaux, Hardy, John A., Majamaa, Kari, Singleton, Andrew B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3404082/
https://www.ncbi.nlm.nih.gov/pubmed/22911860
http://dx.doi.org/10.1371/journal.pone.0041859
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author Hernandez, Dena G.
Nalls, Michael A.
Ylikotila, Pauli
Keller, Margaux
Hardy, John A.
Majamaa, Kari
Singleton, Andrew B.
author_facet Hernandez, Dena G.
Nalls, Michael A.
Ylikotila, Pauli
Keller, Margaux
Hardy, John A.
Majamaa, Kari
Singleton, Andrew B.
author_sort Hernandez, Dena G.
collection PubMed
description 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.
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spelling pubmed-34040822012-07-30 Genome Wide Assessment of Young Onset Parkinson’s Disease from Finland Hernandez, Dena G. Nalls, Michael A. Ylikotila, Pauli Keller, Margaux Hardy, John A. Majamaa, Kari Singleton, Andrew B. PLoS One Research Article 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. Public Library of Science 2012-07-24 /pmc/articles/PMC3404082/ /pubmed/22911860 http://dx.doi.org/10.1371/journal.pone.0041859 Text en 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. https://creativecommons.org/publicdomain/zero/1.0/ This is an open-access article distributed under the terms of the Creative Commons Public Domain declaration, which stipulates that, once placed in the public domain, this work may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose.
spellingShingle Research Article
Hernandez, Dena G.
Nalls, Michael A.
Ylikotila, Pauli
Keller, Margaux
Hardy, John A.
Majamaa, Kari
Singleton, Andrew B.
Genome Wide Assessment of Young Onset Parkinson’s Disease from Finland
title Genome Wide Assessment of Young Onset Parkinson’s Disease from Finland
title_full Genome Wide Assessment of Young Onset Parkinson’s Disease from Finland
title_fullStr Genome Wide Assessment of Young Onset Parkinson’s Disease from Finland
title_full_unstemmed Genome Wide Assessment of Young Onset Parkinson’s Disease from Finland
title_short Genome Wide Assessment of Young Onset Parkinson’s Disease from Finland
title_sort genome wide assessment of young onset parkinson’s disease from finland
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3404082/
https://www.ncbi.nlm.nih.gov/pubmed/22911860
http://dx.doi.org/10.1371/journal.pone.0041859
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