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, 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, Kruger, Rejko, 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-Gueell, Carles, White, Linda R., Wirdefeldt, Karin, Wszolek, Zbigniew K., Wu, Ruey-Meei, Hentati, Faycal, Farrer, Matthew J. and Ross, Owen A. (2013) Population-specific Frequencies for LRRK2 Susceptibility Variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Movement Disorders, 28 12: 1740-1744. doi:10.1002/mds.25600


Author 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
Kruger, Rejko
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-Gueell, Carles
White, Linda R.
Wirdefeldt, Karin
Wszolek, Zbigniew K.
Wu, Ruey-Meei
Hentati, Faycal
Farrer, Matthew J.
Ross, Owen A.
Title Population-specific Frequencies for LRRK2 Susceptibility Variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium
Journal name Movement Disorders   Check publisher's open access policy
ISSN 0885-3185
1531-8257
Publication date 2013-10-01
Year available 2013
Sub-type Article (original research)
DOI 10.1002/mds.25600
Volume 28
Issue 12
Start page 1740
End page 1744
Total pages 5
Place of publication Hoboken, NJ United States
Publisher John Wiley and Sons Inc.
Language eng
Formatted 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.
Keyword Parkinson's disease
Genetics
Association study
Genome wide association
Alpha Synuclein
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: UQ Centre for Clinical Research Publications
Official 2014 Collection
 
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