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Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium

 Michael G. Heckman ; Alexandra I. Soto-Ortolaza ; Owen A. Ross ; Matthew J. Farrer ; Faycal Hentati ; Ruey-Meei Wu ; Zbigniew K. Wszolek ; Karin Wirdefeldt ; Linda R. White ; Carles Vilariño-Güell ; Demetrios K. Vassilatis ; Simone van de Loo ; Christine Van Broeckhoven ; Enza Maria Valente ; Ryan J. Uitti ; Hiroyuki Tomiyama ; Jessie Theuns ; Vera Tadic ; Sung Sup Park ; Grzegorz Opala ; Christer Nilsson ; Eugénie Mutez ; Leonidas Stefanis ; Young Ho Sohn ; Peter A. Silburn ; Manu Sharma ; Aldo Quattrone ; Andreas Puschmann ; Simona Petrucci ; George D. Mellick ; Demetrius M. Maraganore ; Timothy Lynch FRCPI ; Chin-Hsien Lin ; Suzanne Lesage ; Elli Kyratzi ; Rejko Kruger ; Christine Klein ; Yun Joong Kim ; Beom S. Jeon ; Barbara Jasinska-Myga ; Magdalena Boczarska-Jedynak ; John P.A. Ioannidis ; Nobutaka Hattori ; Georgios M. Hadjigeorgiou ; Rachel Gibson ; J. Mark Gibson ; Brian Fiske ; Carlo Ferrarese ; Alexis Elbaz ; Nancy N. Diehl ; Dennis W. Dickson ; Efthimios Dardiotis ; Marie-Christine Chartier-Harlin ; Jonathan Carr ; Laura Brighina ; Alexis Brice ; Maria Bozi ; Soraya Bardien ; Justin A. Bacon ; Grazia Annesi ; Nadine Abahuni ; Jan O. Aasly 
 Movement Disorders, Vol.28(12) : 1740~1744, 2013 
Journal Title
 Movement Disorders 
Issue Date
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.
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1. 연구논문 > 1. College of Medicine > Dept. of Neurology
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