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...

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Autores principales:	Dena G Hernandez, Michael A Nalls, Pauli Ylikotila, Margaux Keller, John A Hardy, Kari Majamaa, Andrew B Singleton
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/618bb2396c2843a48fefd23cf5e09f24
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spelling	oai:doaj.org-article:618bb2396c2843a48fefd23cf5e09f242021-11-18T07:11:15ZGenome wide assessment of young onset Parkinson's disease from Finland.1932-620310.1371/journal.pone.0041859https://doaj.org/article/618bb2396c2843a48fefd23cf5e09f242012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22911860/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203In 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.Dena G HernandezMichael A NallsPauli YlikotilaMargaux KellerJohn A HardyKari MajamaaAndrew B SingletonPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 7, p e41859 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Dena G Hernandez Michael A Nalls Pauli Ylikotila Margaux Keller John A Hardy Kari Majamaa Andrew B Singleton Genome wide assessment of young onset Parkinson's disease from Finland.
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.
format	article
author	Dena G Hernandez Michael A Nalls Pauli Ylikotila Margaux Keller John A Hardy Kari Majamaa Andrew B Singleton
author_facet	Dena G Hernandez Michael A Nalls Pauli Ylikotila Margaux Keller John A Hardy Kari Majamaa Andrew B Singleton
author_sort	Dena G Hernandez
title	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_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_sort	genome wide assessment of young onset parkinson's disease from finland.
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/618bb2396c2843a48fefd23cf5e09f24
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_version_	1718423790255341568

Genome wide assessment of young onset Parkinson's disease from Finland.

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