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Get Free AccessABSTRACT Background Variants within the leucine‐rich repeat kinase 2 gene are recognized as the most frequent genetic cause of Parkinson's disease. Leucine‐rich repeat kinase 2 variation related to disease susceptibility displays many features that reflect the nature of complex, late‐onset sporadic disorders like Parkinson's disease. Methods The Genetic Epidemiology of Parkinson's Disease Consortium recently performed the largest genetic association study for variants in the leucine‐rich repeat kinase 2 gene across 23 different sites in 15 countries. Results Herein, we detail the allele frequencies for the novel risk factors (p.A419V and p.M1646T) and the protective haplotype (p.N551K‐R1398H‐K1423K) nominated in the original publication. Simple population allele frequencies not only can provide insight into the clinical relevance of specific variants but also can help genetically define patient groups. Conclusions Establishing individual patient‐based genomic susceptibility profiles that incorporate both risk factors and protective factors will determine future diagnostic and treatment strategies. © 2013 International Parkinson and Movement Disorder Society
Matthew J. Farrer, Owen A. Ross, Michael G. Heckman, Alexandra I. Soto‐Ortolaza, Jan Aasly, Nadine Abahuni, Grazia Annesi, Justin A. Bacon, Soraya Bardien, Maria Bozi, Alexis Brice, Laura Brighina, Jonathan Carr, Marie‐Christine Chartier‐Harlin, Efthimios Dardiotis, Dennis W. Dickson, Nancy N. Diehl, Alexis Elbaz, Carlo Ferrarese, Brian Fiske, Jonathan Gibson, Rachel A. Gibson, Georgios M. Hadjigeorgiou, Nobutaka Hattori, John P A Ioannidis, Magdalena Boczarska‐Jedynak, Barbara Jasińska‐Myga, Beom S. Jeon, Yun Joong Kim, Christine Klein, Rejko Krüger, Elli Kyratzi, Suzanne Lesage, Chin‐Hsien Lin, Timothy Lynch, Demetrius M. Maraganore, George D. Mellick, Eugénie Mutez, Christer Nilsson, Grzegorz Opala, Sung Sup Park, Simona Petrucci, Andreas Puschmann, Aldo Quattrone, Manu Sharma, Peter A. Silburn, Young H. Sohn, Leonidas Stefanis, Vera Tadić, Jessie Theuns, Hiroyuki Tomiyama, Ryan J. Uitti, Enza Maria Valente, Christine Van Broeckhoven, Simone van de Loo, Demetrios K. Vassilatis, Carles Vilariño‐Güell, Linda R. White, Karin Wirdefeldt, Zbigniew K. Wszołek, Ruey‐Meei Wu, Fayçal Hentati (2013). Population‐specific frequencies for <i>LRRK2</i> susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO‐PD) consortium. , 28(12), DOI: https://doi.org/10.1002/mds.25600.
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Type
Article
Year
2013
Authors
62
Datasets
0
Total Files
0
Language
en
DOI
https://doi.org/10.1002/mds.25600
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