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New insights into the genetic architecture of Parkinson’s disease

Scientists at the Hertie Institute for Clinical Brain Research and the University Hospital of Tübingen have – as leaders of a large, international joint study – demonstrated the significance of new genetic risk factors for Parkinson’s disease in different population groups.

The study is based on the genetic analysis of more than 17,000 patients and healthy control persons. As one of the largest genetic studies on Parkinson’s disease to date, for the first time the study establishes the significance of risk genes in pathogenesis, not only for the inhabitants of the western hemisphere but also for the population in the Asia-Pacific region (Neurology 11.07.2012).

Due to the rapid technical progress in genetic analyses large patient groups can be examined for risk genes for Parkinson’s disease with relatively little time expenditure. In the process, Parkinson’s patients are typically examined from specific regions, for example Western Europe or the USA, with the result that, to date, is was unclear whether and to what extent the risk factors found can be extrapolated to other population groups worldwide.

To tackle these problems, already in 2004, Tübingen physicians and researchers had founded a consortium, together with colleagues from the USA, for investigating the genetic-epidemiological causes of Parkinson’s disease (GEO-PD). The current study was funded by the Michael J Fox Foundation (MJFF) and arose as part of this consortium in collaboration with Parkinson’s specialists from 19 countries and four continents.

The DNA samples collected in this way from over 17,000 patients and control persons have now made it possible for the first time to examine the results of large genome-wide association studies in different patient populations worldwide and to define their significance for their respective population. In doing so the study reveals the particular significance of the population-specific context in interpreting and evaluating genetic risk factors.

On the basis of the study, risk genes can be named for Parkinson’s disease, which, via follow-up examinations on the affected carriers, allow predictions on the natural progression of the disease. This is a first step in the direction of future personalised risk modelling for carriers of the different gene variations.

Title of the publication: Large scale replication and heterogeneity in Parkinson desease genetic loci

Published in: Neurology „ahead of print“, 11.07.2012. Neurology

Manu Sharma, John P.A. Ioannidis, Jan O. Aasly, Grazia Annesi, Alexis Brice, Christine Van Broeckhoven, Lars Bertram, Maria Bozi, David Crosiers, Carl Clarke, Maurizio Facheris, Matthew Farrer, Suzana Gispert, Georg Auburger, Carles Vilariño-Güell, Georgios M. Hadjigeorgiou , Andrew A. Hicks, Nobutaka Hattori, Beom Jeon, Suzanne Lesage, Christina M Lill, Juei-Jueng Lin, Timothy Lynch, Peter Lichtner , Anthony E Lang , Vincent Mok, Barbara Jasinska-Myga , George D. Mellick, Karen Morrison, Grzegorz Opala, Peter P. Pramstaller, Irene Pichler, Sung Sup Park, Aldo Quattrone, Ekaterina Rogaeva , Owen A. Ross, Leonidas Stefanis, Joanne D Stockton, Wataru Satake, Peter A. Silburn , Jessie Theuns, Eng King Tan, Tatsushi Toda, Hiroyuki Tomiyama, Ryan J. Uitti, Karin Wirdefeldt, Zbigniew Wszolek, Georgia Xiromerisiou, Kuo-Chu Yueh, Yi Zhao, Thomas Gasser, Demetrius Maraganore, Rejko Krüger on behalf of the GEOPD consortium. Worldwide replication and heterogeneity in Parkinson disease genetic loci (2012)


Dr. Manu Sharma
Hertie-Institut für klinische Hirnforschung (HIH),
Universitätsklinikum Tübingen,
Zentrum für Neurologie
Telefon: (+49) 7071 -2981968
Hertie-Institut für klinische Hirnforschung
Externe Pressestelle
Kirstin Ahrens
Telefon: 07073-500 724, Mobil: 0173-300 53 96
Universitätsklinikum Tübingen
Presse- und Öffentlichkeitsarbeit
Dr. Ellen Katz
Telefon: 07071-29 80 112

Kirstin Ahrens | idw
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