Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium
Journal
Movement Disorders
Journal Volume
28
Journal Issue
12
Pages
1740-1744
Date Issued
2013
Author(s)
Heckman M.G.
Soto-Ortolaza A.I.
Aasly J.O.
Abahuni N.
Annesi G.
Bacon J.A.
Bardien S.
Bozi M.
Brice A.
Brighina L.
Carr J.
Chartier-Harlin M.-C.
Dardiotis E.
Dickson D.W.
Diehl N.N.
Elbaz A.
Ferrarese C.
Fiske B.
Gibson J.M.
Gibson R.
Hadjigeorgiou G.M.
Hattori N.
Ioannidis J.P.A.
Boczarska-Jedynak M.
Jasinska-Myga B.
Jeon B.S.
Kim Y.J.
Klein C.
Kruger R.
Kyratzi E.
Lesage S.
Lynch T.
Maraganore D.M.
Mellick G.D.
Mutez E.
Nilsson C.
Opala G.
Park S.S.
Petrucci S.
Puschmann A.
Quattrone A.
Sharma M.
Silburn P.A.
Sohn Y.H.
Stefanis L.
Tadic V.
Theuns J.
Tomiyama H.
Uitti R.J.
Valente E.M.
Van Broeckhoven C.
Van De Loo S.
Vassilatis D.K.
Vilariño-Güell C.
White L.R.
Wirdefeldt K.
Wszolek Z.K.
Hentati F.
Farrer M.J.
Ross O.A.
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. ? 2013 Movement Disorder Society.
SDGs
Other Subjects
leucine rich repeat kinase 2; allele; Alzheimer disease; article; disease predisposition; dyskinesia; gene frequency; genetic epidemiology; genetic risk; genetic screening; genetic susceptibility; genetic variability; human; impulse control disorder; Parkinson disease; priority journal; risk factor; association study; genetics; LRRK2; Parkinson's disease; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Genetics, Population; Genotype; Haplotypes; Humans; Molecular Epidemiology; Parkinson Disease; Polymorphism, Single Nucleotide; Protein-Serine-Threonine Kinases
Type
journal article