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

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 GibsonGeorgios 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, 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

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1740-1744
Number of pages5
JournalMovement Disorders
Volume28
Issue number12
DOIs
StatePublished - Oct 2013

Keywords

  • Association study
  • Genetics
  • LRRK2
  • Parkinson's disease

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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