[en] Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genetics, Population ; Genotype ; Haplotypes ; Humans ; Molecular Epidemiology ; Parkinson Disease/epidemiology/genetics ; Polymorphism, Single Nucleotide ; Protein-Serine-Threonine Kinases/genetics ; LRRK2 ; Parkinson's disease ; association study ; genetics
[en] 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.
Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)
[University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit]
