Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology Of Parkinson’s Disease (GEO-PD) consortium
Identifieur interne : 000350 ( Pmc/Corpus ); précédent : 000349; suivant : 000351Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology Of Parkinson’s Disease (GEO-PD) consortium
Auteurs : 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 Gibson ; Georgios M. Hadjigeorgiou ; Nobutaka Hattori ; Faycal Hentati ; 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 Vilari O-Güell ; Linda R. White ; Karin Wirdefeldt ; Zbigniew K. Wszolek ; Ruey-Meei Wu ; Matthew J. Farrer ; Owen A. RossSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2013.
Abstract
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 susceptibility to disease displays many features that reflect the nature of complex late-onset sporadic disorders, such as Parkinson’s disease. 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. Herein we detail the allele frequencies for the novel risk factors (p.A419V and p.M1646T) and the protective haplotype (p.N551K-R1398H-K1423K) reported in the original publication. Simple population allele frequencies can not only provide an insight into the clinical relevance of specific variants but also help genetically define patient groups. Establishing individual patient-based genomic susceptibility profiles incorporating both risk and protective factors will determine future diagnostic and treatment strategies.
Url:
DOI: 10.1002/mds.25600
PubMed: 23913756
PubMed Central: 4108155
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