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

Lill, C. M./ Roehr, J. T./ McQueen, M. B./ Kavvoura, F. K./ Bagade, S./ Schjeide, B. M./ Schjeide, L. M./ Meissner, E./ Zauft, U./ Allen, N. C./ Liu, T./ Schilling, M./ 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, H./ Ioannidis, J. P./ Bertram, L.

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 approximately 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 performed meta-analyses on more than seven million polymorphisms originating either from GWAS datasets and/or from smaller scale PD association studies. Meta-analyses on 147 SNPs were supplemented by unpublished GWAS data from up to 16,452 PD cases and 48,810 controls.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<5x10(-8)) 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 = 1.3x10(-8)). All meta-analysis results are freely available on a dedicated online database (, 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.
Institution and School/Department of submitter: Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής
ISSN: 1553-7404
Appears in Collections:Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά)

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