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Population-specific Frequencies for LRRK2 Susceptibility Variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium

Heckman, Michael G.; Soto-Ortolaza, Alexandra I.; Aasly, Jan O.; Abahuni, Nadine; Annesi, Grazia; Bacon, Justin A.; Bardien, Soraya; Bozi, Maria; Brice, Alexis and Brighina, Laura, et al. (2013) In Movement Disorders 28(12). p.1740-1744
Abstract
BackgroundVariants 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. MethodsThe 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. ResultsHerein, 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... (More)
BackgroundVariants 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. MethodsThe 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. ResultsHerein, 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. ConclusionsEstablishing individual patient-based genomic susceptibility profiles that incorporate both risk factors and protective factors will determine future diagnostic and treatment strategies. (c) 2013 International Parkinson and Movement Disorder Society (Less)
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publication status
published
subject
keywords
Parkinson's disease, LRRK2, genetics, association study
in
Movement Disorders
volume
28
issue
12
pages
1740 - 1744
publisher
John Wiley & Sons
external identifiers
  • wos:000326065900025
  • scopus:84886446293
ISSN
0885-3185
DOI
10.1002/mds.25600
language
English
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yes
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b34b6bda-8889-4e51-803b-b4f0aa8be31d (old id 4212906)
date added to LUP
2014-01-03 10:48:49
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2018-05-29 10:46:10
@article{b34b6bda-8889-4e51-803b-b4f0aa8be31d,
  abstract     = {BackgroundVariants 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. MethodsThe 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. ResultsHerein, 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. ConclusionsEstablishing individual patient-based genomic susceptibility profiles that incorporate both risk factors and protective factors will determine future diagnostic and treatment strategies. (c) 2013 International Parkinson and Movement Disorder Society},
  author       = {Heckman, Michael G. and Soto-Ortolaza, Alexandra I. and Aasly, Jan O. and Abahuni, Nadine and Annesi, Grazia and Bacon, Justin A. and Bardien, Soraya and Bozi, Maria and Brice, Alexis and Brighina, Laura and Carr, Jonathan and Chartier-Harlin, Marie-Christine and Dardiotis, Efthimios and Dickson, Dennis W. and Diehl, Nancy N. and Elbaz, Alexis and Ferrarese, Carlo and Fiske, Brian and Gibson, J. Mark and Gibson, Rachel and Hadjigeorgiou, Georgios M. and Hattori, Nobutaka and Ioannidis, John P. A. and Boczarska-Jedynak, Magdalena and Jasinska-Myga, Barbara and Jeon, Beom S. and Kim, Yun Joong and Klein, Christine and Kruger, Rejko and Kyratzi, Elli and Lesage, Suzanne and Lin, Chin-Hsien and Lynch, Timothy and Maraganore, Demetrius M. and Mellick, George D. and Mutez, Eugenie and Nilsson, Christer and Opala, Grzegorz and Park, Sung Sup and Petrucci, Simona and Puschmann, Andreas and Quattrone, Aldo and Sharma, Manu and Silburn, Peter A. and Sohn, Young Ho and Stefanis, Leonidas and Tadic, Vera and Theuns, Jessie and Tomiyama, Hiroyuki and Uitti, Ryan J. and Valente, Enza Maria and Van Broeckhoven, Christine and van de Loo, Simone and Vassilatis, Demetrios K. and Vilarino-Gueell, Carles and White, Linda R. and Wirdefeldt, Karin and Wszolek, Zbigniew K. and Wu, Ruey-Meei and Hentati, Faycal and Farrer, Matthew J. and Ross, Owen A.},
  issn         = {0885-3185},
  keyword      = {Parkinson's disease,LRRK2,genetics,association study},
  language     = {eng},
  number       = {12},
  pages        = {1740--1744},
  publisher    = {John Wiley & Sons},
  series       = {Movement Disorders},
  title        = {Population-specific Frequencies for LRRK2 Susceptibility Variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium},
  url          = {http://dx.doi.org/10.1002/mds.25600},
  volume       = {28},
  year         = {2013},
}