Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.900 GeneticVariation BEFREE A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan. 16633828 2006
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.900 GeneticVariation BEFREE Our study lends support to the contention that the Gly2385Arg is a common risk factor for PD in the Chinese population. 17019612 2007
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.900 GeneticVariation BEFREE These data suggest that the G2385R variant contributes significantly to the etiology of PD in ethnic Han Chinese individuals. 17187665 2006
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.900 GeneticVariation BEFREE Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia. 17222580 2007
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.900 GeneticVariation BEFREE Leucine-rich repeat kinase 2 G2385R variant is a risk factor for Parkinson disease in Asian population. 17314670 2007
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.900 GeneticVariation BEFREE While the most common mutation G2019S and the risk variant G2385R were not found in our samples, we detected a novel missense mutation (S973N) in a patient with familial, late-onset and dopa-responsive PD. 17523199 2007
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.900 GeneticVariation BEFREE The frequency of the heterozygous Gly2385Arg genotype was not significantly different in PD compared with controls (1.2% vs. 0.8%, odds ratio = 2.83, 95% CI 0.40, 20.2, P = 0.3). 17659642 2007
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.900 GeneticVariation BEFREE A common LRRK2 Gly2385Arg variant has been widely shown to be associated with a twofold increased risk of PD in various Asian populations. 17720280 2009
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.900 GeneticVariation BEFREE We conducted an analysis of independent studies involving 2205 PD and 1817 controls and found the average carrier rate of G2385R variant to be about 9% in PD and 4% in controls (p < 0.001; odds ratio: 2.27; 95% confidence interval: 1.78-2.9). 17868389 2007
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.900 GeneticVariation BEFREE Our study indicates that the LRRK2 Gly2385Arg variant is a potential ethnic-specific genetic risk factor of Parkinson's disease within Chinese Han ethnicity. 17960808 2007
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.900 GeneticVariation BEFREE LRRK2 Gly2385Arg variant is a risk factor of Parkinson's disease among Han-Chinese from mainland China. 18201193 2008
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.900 GeneticVariation BEFREE A common LRRK2 Gly2385Arg variant has been widely shown to be associated with a two fold increased risk of PD in various Asian populations. 18316234 2008
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.900 GeneticVariation BEFREE We conclude that the Gly2385Arg variant is not associated with primary dystonia in Taiwan, supporting the specificity of the association between this variant and PD. 18450497 2008
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.900 GeneticVariation BEFREE The frequency of LRRK2 Gly2385Arg mutation in Hong Kong Chinese with early-onset (age < or =45 years) Parkinson's disease was identified and compared with late-onset patients (age >50 years) and controls. 18523722 2008
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.900 GeneticVariation BEFREE The clinical phenotypes and [(18)F]-dopa PET findings for subjects with R1441H or G2385R resembled those of patients with idiopathic PD; however, their lymphoblastoid cell lines showed increased apoptosis following exposure to a proteosome inhibitor. 18523869 2008
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.900 GeneticVariation BEFREE Recently, G2385R substitution in LRRK2 has been determined as a susceptibility allele in Asian PD. 18704525 2008
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.900 GeneticVariation BEFREE G2385R was highly associated with PD under a dominant model in our dataset (adjusted OR, 1.83; 95% CI, 1.31-2.54; P = 3.3 x 10(-4)) and similar results were seen in the meta-analysis (summary OR assuming fixed effects, 2.55; 95% CI, 2.10-3.10). 19343804 2009
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.900 GeneticVariation BEFREE Two polymorphic variants found almost exclusively among Asians (G2385R and R1628P) have been shown to increase the Parkinson's disease risk by approximately two-fold. 19804413 2009
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.900 GeneticVariation BEFREE This study supports that the LRRK2 G2385R variant may be a genetic risk factor for sporadic PD in the Korean population. 19854095 2010
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.900 GeneticVariation BEFREE In addition, we also explored the potential relationship between GBA L444P mutation and LRRK2 G2385R and R1628P variants in patients with PD.But no association was found, either. 20004703 2010
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.900 GeneticVariation BEFREE We and others found two polymorphic LRRK2 (leucine-rich repeat kinase 2) variants (rs34778348:G>A; p.G2385R and rs33949390:G>C; p.R1628P) associated with Parkinson disease (PD) among Chinese patients, but the common worldwide rs34637584:G>A; p.G2019S mutation, was absent. 20186690 2010
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.900 GeneticVariation BEFREE The present study confirms that the LRRK2 Gly2385Arg variant is a risk factor for sporadic PD. 20673920 2010
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.900 GeneticVariation BEFREE In addition, the frequency of p.G2385R was also higher in sPD than in controls, although not significant (allele frequency, 3.4 vs 2.1%) (χ(2)=0.76, P=0.38). 21796139 2011
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.900 GeneticVariation BEFREE LRRK2 p.G2385R variant (odds ratio [OR] = 3.2; 95% confidence interval [CI] = 1.96-5.15, p < 0.0001), not BDNF p.V66M alone significantly increased the risk of PD. 21924942 2012
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.900 GeneticVariation GWASCAT Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. 22438815 2012