Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's 
Disease Genetics: The PDGene Database

Lill, Christina M.; Roehr, Christina; McQueen, M. B.; Kavvoura, F. K.; Bagade, S.; Schjeide, Brit-Maren; Schjeide, Leif; Meissner, Esther; Zauft, Ute; Allen, N. C.; Liu, Tian; Schilling, Marcel; Anderson, K. J.; Beecham, G.; Berg, D.; Biernacka, J. M.; Brice, A.; DeStefano, A. L.; Do, C. B.; Eriksson, N.; Factor, S. A.; Farrer, M. J.; Foroud, T.; Gasser, T.; Hamza, T.; Hardy, J. A.; Heutink, P.; Hill-Burns, E. M.; Klein, C.; Latourelle, J. C.; Maraganore, D. M.; Martin, E. R.; Martinez, M.; Myers, R. H.; Nalls, M. A.; Pankratz, N.; Payami, H.; Satake, W.; Scott, W. K.; Sharma, M.; Singleton, A. B.; Stefansson, K.; Toda, T.; Tung, J. Y.; Vance, J.; Wood, N. W.; Zabetian, C. P.; Young, P.; Tanzi, R. E.; Khoury, M. J.; Zipp, F.; Lehrach, Hans; Ioannidis, J. P. A.; Bertram, Lars; Parkinson's, Genetic Epidemiology; IPDGC,; Consortium, Parkinson's Dis GWAS; WTCCC2,

doi:ARTN e1002548DOI 10.1371/journal.pgen.1002548

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Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database

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Lill, Christina M.
Neuropsychiatric Genetics (Lars Bertram), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Roehr, Christina
Cancer Genomics (Michal-Ruth Schweiger), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Schjeide, Brit-Maren
Neuropsychiatric Genetics (Lars Bertram), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Schjeide, Leif
Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Meissner, Esther
Neuropsychiatric Genetics (Lars Bertram), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Zauft, Ute
Neuropsychiatric Genetics (Lars Bertram), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society;

Liu, Tian
Neuropsychiatric Genetics (Lars Bertram), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Schilling, Marcel
Neuropsychiatric Genetics (Lars Bertram), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Lehrach, Hans
Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Bertram, Lars
Neuropsychiatric Genetics (Lars Bertram), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society;
Cancer Genomics (Michal-Ruth Schweiger), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Citation

Lill, C. M., Roehr, C., McQueen, M. B., Kavvoura, F. K., Bagade, S., Schjeide, B.-M., et al. (2012). Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database. PLoS Genetics, 8(3), e1002548. doi:ARTN e1002548DOI 10.1371/journal.pgen.1002548.

Cite as: https://hdl.handle.net/11858/00-001M-0000-000E-F06A-0

Abstract

More than 800 published genetic association studies have implicated dozens of potential risk loci in Parkinson’s disease (PD). To facilitate the interpretation of these findings, we have created a dedicated online resource, PDGene, that comprehensively collects and meta-analyzes all published studies in the field. A systematic literature screen of ,27,000 articles yielded 828 eligible articles from which relevant data were extracted. In addition, individual-level data from three publicly available genome-wide association studies (GWAS) were obtained and subjected to genotype imputation and analysis. Overall, we performedmeta-analyses on more than seven million polymorphisms originating either from GWAS datasets and/or from smaller scale PD association studies. Metaanalyses on 147 SNPs were supplemented by unpublished GWAS data from up to 16,452 PD cases and 48,810 controls. Eleven loci showed genome-wide significant (P,561028) association with disease risk: BST1, CCDC62/HIP1R, DGKQ/GAK, GBA, LRRK2, MAPT, MCCC1/LAMP3, PARK16, SNCA, STK39, and SYT11/RAB25. In addition, we identified novel evidence for genome-wide significant association with a polymorphism in ITGA8 (rs7077361, OR 0.88, P=1.361028). All meta-analysis results are freely available on a dedicated online database (www.pdgene.org), which is cross-linked with a customized track on the UCSC Genome Browser. Our study provides an exhaustive and up-to-date summary of the status of PD genetics research that can be readily scaled to include the results of future large-scale genetics projects, including next-generation sequencing studies.