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Population‐specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO‐PD) consortium
Author(s) -
Heckman Michael G.,
SotoOrtolaza Alexandra I.,
Aasly Jan O.,
Abahuni Nadine,
Annesi Grazia,
Bacon Justin A.,
Bardien Soraya,
Bozi Maria,
Brice Alexis,
Brighina Laura,
Carr Jonathan,
ChartierHarlin MarieChristine,
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.,
BoczarskaJedynak Magdalena,
JasinskaMyga Barbara,
Jeon Beom S.,
Kim Yun Joong,
Klein Christine,
Kruger Rejko,
Kyratzi Elli,
Lesage Suzanne,
Lin ChinHsien,
Lynch Timothy,
Maraganore Demetrius M.,
Mellick George D.,
Mutez Eugénie,
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.,
VilariñoGüell Carles,
White Linda R.,
Wirdefeldt Karin,
Wszolek Zbigniew K.,
Wu RueyMeei,
Hentati Faycal,
Farrer Matthew J.,
Ross Owen A.
Publication year - 2013
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.25600
Subject(s) - lrrk2 , parkinson's disease , epidemiology , population , medicine , genetic epidemiology , disease , degenerative disease , central nervous system disease , genetics , biology , environmental health
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. © 2013 International Parkinson and Movement Disorder Society