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
Abstract :
[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.
Research center :
- Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)
Disciplines :
Genetics & genetic processes
Author, co-author :
Heckman, Michael G.
Soto-Ortolaza, Alexandra I.
Aasly, Jan O.
Abahuni, Nadine
Annesi, Grazia
Bacon, Justin A.
Bardien, Soraya
Bozi, Maria
Brice, Alexis
Brighina, Laura
Carr, Jonathan
Chartier-Harlin, Marie-Christine
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.
Boczarska-Jedynak, Magdalena
Jasinska-Myga, Barbara
Jeon, Beom S.
Kim, Yun Joong
Klein, Christine
KRÜGER, Rejko ; University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit