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

 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
Issue Date
Journal Title
 Movement Disorders
 Movement Disorders, Vol.28(12) : 1740~1744, 2013
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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