Title |
Genome Wide Assessment of Young Onset Parkinson’s Disease from Finland
|
---|---|
Published in |
PLOS ONE, July 2012
|
DOI | 10.1371/journal.pone.0041859 |
Pubmed ID | |
Authors |
Dena G. Hernandez, Michael A. Nalls, Pauli Ylikotila, Margaux Keller, John A. Hardy, Kari Majamaa, Andrew B. Singleton |
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. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Sweden | 1 | 2% |
Unknown | 52 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 10 | 19% |
Student > Master | 7 | 13% |
Student > Doctoral Student | 7 | 13% |
Researcher | 6 | 11% |
Student > Bachelor | 3 | 6% |
Other | 8 | 15% |
Unknown | 12 | 23% |
Readers by discipline | Count | As % |
---|---|---|
Neuroscience | 9 | 17% |
Medicine and Dentistry | 9 | 17% |
Agricultural and Biological Sciences | 8 | 15% |
Nursing and Health Professions | 5 | 9% |
Biochemistry, Genetics and Molecular Biology | 5 | 9% |
Other | 6 | 11% |
Unknown | 11 | 21% |