Reference : Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epid...
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/10993/17214
Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium.
English
Heckman, Michael G. [> >]
Soto-Ortolaza, Alexandra I. [> >]
Aasly, Jan O. [> >]
Abahuni, Nadine [> >]
Annesi, Grazia [> >]
Bacon, Justin A. [> >]
Bardien, Soraya [> >]
Bozi, Maria [> >]
Brice, Alexis [> >]
Brighina, Laura [> >]
Carr, Jonathan [> >]
Chartier-Harlin, Marie-Christine [> >]
Dardiotis, Efthimios [> >]
Dickson, Dennis W. [> >]
Diehl, Nancy N. [> >]
Elbaz, Alexis [> >]
Ferrarese, Carlo [> >]
Fiske, Brian [> >]
Gibson, J. Mark [> >]
Gibson, Rachel [> >]
Hadjigeorgiou, Georgios M. [> >]
Hattori, Nobutaka [> >]
Ioannidis, John P. A. [> >]
Boczarska-Jedynak, Magdalena [> >]
Jasinska-Myga, Barbara [> >]
Jeon, Beom S. [> >]
Kim, Yun Joong [> >]
Klein, Christine [> >]
Krüger, Rejko mailto [University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit]
Kyratzi, Elli [> >]
Lesage, Suzanne [> >]
Lin, Chin-Hsien [> >]
Lynch, Timothy [> >]
Maraganore, Demetrius M. [> >]
Mellick, George D. [> >]
Mutez, Eugenie [> >]
Nilsson, Christer [> >]
Opala, Grzegorz [> >]
Park, Sung Sup [> >]
Petrucci, Simona [> >]
Puschmann, Andreas [> >]
Quattrone, Aldo [> >]
Sharma, Manu [> >]
Silburn, Peter A. [> >]
Sohn, Young Ho [> >]
Stefanis, Leonidas [> >]
Tadic, Vera [> >]
Theuns, Jessie [> >]
Tomiyama, Hiroyuki [> >]
Uitti, Ryan J. [> >]
Valente, Enza Maria [> >]
Van Broeckhoven, Christine [> >]
van de Loo, Simone [> >]
Vassilatis, Demetrios K. [> >]
Vilarino-Guell, Carles [> >]
White, Linda R. [> >]
Wirdefeldt, Karin [> >]
Wszolek, Zbigniew K. [> >]
Wu, Ruey-Meei [> >]
Hentati, Faycal [> >]
Farrer, Matthew J. [> >]
Ross, Owen A. [> >]
2013
Movement disorders : official journal of the Movement Disorder Society
28
12
1740-4
Yes (verified by ORBilu)
0885-3185
1531-8257
United States
[en] Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genetics, Population ; Genotype ; Haplotypes ; Humans ; Molecular Epidemiology ; Parkinson Disease/epidemiology/genetics ; Polymorphism, Single Nucleotide ; Protein-Serine-Threonine Kinases/genetics ; LRRK2 ; Parkinson's disease ; association study ; genetics
[en] 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.
Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)
http://hdl.handle.net/10993/17214
10.1002/mds.25600
(c) 2013 Movement Disorder Society.

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