Annals of Neurology · 2008 · 194 citations · 12 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsNeurogeneticsDisease Susceptibility LociGenetic RiskGenetic SusceptibilityNeurodegenerative Disease GeneticsParkinson DiseaseParkinsonian DisordersHaplotype Frequency AnalysisLrrk2 MutationsParkinson's Disease GeneticsSporadic Neurodegenerative Disease Susceptibility
Common genetic variants that increase the risk for Parkinson's disease may differentiate patient subgroups and influence future individualized therapeutic strategies. Herein we show evidence for leucine-rich repeat kinase 2 (LRRK2) c.4883G>C (R1628P) as a risk factor in ethnic Chinese populations. A study of 1,986 individuals from 3 independent centers in Taiwan and Singapore demonstrates that Lrrk2 R1628P increases risk for Parkinson's disease (odds ratio, 1.84; 95% confidence interval, 1.20-2.83; p = 0.006). Haplotype analysis suggests an ancestral founder for carriers approximately 2,500 years ago. These findings support the importance of LRRK2 variants in sporadic Parkinson's disease. Ann Neurol 2008.
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Lrrk2 pathogenic substitutions in Parkinson's disease
Ignácio F. Mata, Jennifer M. Kachergus, Julie P. Taylor et al. · Neurogenetics · 2005 · 234 citations
The LRRK2 Gly2385Arg variant is associated with Parkinson’s disease: genetic and functional evidence
Eng‐King Tan, Yi Zhao, Lisa Skipper et al. · Human Genetics · 2006 · 161 citations