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

Authors
 Michael G. Heckman  ;  Alexandra I. Soto-Ortolaza  ;  Jan O. 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  ;  J. Mark Gibson  ;  Rachel Gibson  ;  Georgios M. Hadjigeorgiou  ;  Nobutaka Hattori  ;  John P.A. Ioannidis  ;  Magdalena Boczarska-Jedynak  ;  Barbara Jasinska-Myga  ;  Beom S. Jeon  ;  Yun Joong Kim  ;  Christine Klein  ;  Rejko Kruger  ;  Elli Kyratzi  ;  Suzanne Lesage  ;  Chin-Hsien Lin  ;  Timothy Lynch FRCPI  ;  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 Ho Sohn  ;  Leonidas Stefanis  ;  Vera Tadic  ;  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. Wszolek  ;  Ruey-Meei Wu  ;  Faycal Hentati  ;  Matthew J. Farrer  ;  Owen A. Ross 
Citation
 MOVEMENT DISORDERS, Vol.28(12) : 1740-1744, 2013 
Journal Title
MOVEMENT DISORDERS
ISSN
 0885-3185 
Issue Date
2013
MeSH
Gene Frequency* ; Genetic Association Studies ; Genetic Predisposition to Disease* ; Genetics, Population ; Genotype ; Haplotypes ; Humans ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 ; Molecular Epidemiology ; Parkinson Disease/epidemiology* ; Parkinson Disease/genetics* ; Polymorphism, Single Nucleotide ; Protein-Serine-Threonine Kinases/genetics*
Keywords
LRRK2 ; Parkinson's disease ; association study ; genetics
Abstract
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.
Full Text
http://dx.doi.org/10.1002/mds.25600
DOI
10.1002/mds.25600
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Sohn, Young Ho(손영호) ORCID logo https://orcid.org/0000-0001-6533-2610
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/88921
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