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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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2012-01-01
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| Series: | PLoS ONE |
| Online Access: | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0041859&type=printable |
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| 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 |
| collection | DOAJ |
| 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 |
| id | doaj-art-618bb2396c2843a48fefd23cf5e09f24 |
| institution | DOAJ |
| issn | 1932-6203 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj-art-618bb2396c2843a48fefd23cf5e09f242025-08-20T03:09:48ZengPublic Library of Science (PLoS)PLoS ONE1932-62032012-01-0177e4185910.1371/journal.pone.0041859Genome wide assessment of young onset Parkinson's disease from Finland.Dena G HernandezMichael A NallsPauli YlikotilaMargaux KellerJohn A HardyKari MajamaaAndrew B SingletonIn 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.https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0041859&type=printable |
| spellingShingle | 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. PLoS ONE |
| 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 |
| url | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0041859&type=printable |
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