Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium
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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 PA
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
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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.
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Movement Disorders
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28
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12
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© 2013 Movement Disorder Society. This is the pre-peer reviewed version of the following article: Population‐specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO‐PD) consortium, Movement Disorders, Volume28, Issue12, October 2013, Pages 1740-1744, which has been published in final form at https://doi.org/10.1002/mds.25600. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving (http://olabout.wiley.com/WileyCDA/Section/id-828039.html)
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