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Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium

Authors
 김윤중 ; 손영호 
Citation
 Movement Disorders, Vol.28(12) : 1740~1744, 2013 
Journal Title
 Movement Disorders 
ISSN
 0885-3185 
Issue Date
2013
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.
URI
http://ir.ymlib.yonsei.ac.kr/handle/22282913/88921
DOI
10.1002/mds.25600
Appears in Collections:
1. 연구논문 > 1. College of Medicine > Dept. of Neurology
Yonsei Authors
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Link
 http://dx.doi.org/10.1002/mds.25600
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