title: Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium.
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.
authors.affiliation: Biostatistics Unit, Mayo Clinic, Jacksonville, Florida, USA.
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authors.lastname: Silburn
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authors.lastname: Stefanis
authors.forename: Vera
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authors.lastname: Tadic
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authors.forename: Hiroyuki
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authors.lastname: Tomiyama
authors.forename: Ryan J
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authors.lastname: Uitti
authors.forename: Enza Maria
authors.initials: EM
authors.lastname: Valente
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authors.lastname: Van Broeckhoven
authors.forename: Simone
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authors.lastname: van de Loo
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authors.lastname: Vassilatis
authors.forename: Carles
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authors.lastname: Vilariño-Güell
authors.forename: Linda R
authors.initials: LR
authors.lastname: White
authors.forename: Karin
authors.initials: K
authors.lastname: Wirdefeldt
authors.forename: Zbigniew K
authors.initials: ZK
authors.lastname: Wszolek
authors.forename: Ruey-Meei
authors.initials: RM
authors.lastname: Wu
authors.forename: Faycal
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mesh_terms: D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017720:Molecular Epidemiology; D010300:Parkinson Disease / Q000453:epidemiology* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases
keywords: LRRK2; Parkinson's disease; association study; genetics
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