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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
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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
Yonsei Authors
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