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Parkinsonism Relat Disord. 2010 Feb;16(2):85-8. doi: 10.1016/j.parkreldis.2009.10.004. Epub 2009 Oct 23.

The LRRK2 G2385R variant is a risk factor for sporadic Parkinson's disease in the Korean population.

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1
Department of Neurology, Seoul National University College of Medicine, MRC and BK-21, Clinical Research Institute, Seoul National University Hospital and Bundang Hospital, Boramae Municipal Hospital, Seoul, South Korea.

Abstract

The G2385R (SNP accession no. rs34778348) and R1628P (rs33949390) variants of leucine-rich repeat kinase 2 (LRRK2, PARK8) are emerging as an important risk factor for Parkinson's disease (PD) in the ethnic Chinese and Japanese populations. The purpose of this study was to investigate whether these variants are a genetic risk factor in sporadic PD patients in the Korean population. A total of 923 patients and 422 healthy subjects were included. The variants were screened by a SNaPshot assay. The LRRK2 G2385R variant was detected in 82 PD patients (8.9%, two homozygous and 80 heterozygous) and in 21 normal controls (5.0%, all heterozygous). The frequency of the LRRK2 G2385R variant in PD was significantly higher than in normal controls (adjusted odds ratio 1.83, p = 0.0170, 95% confidence interval 1.11-3.00). There were no differences in the mean age at onset or gender between the G2385R carriers and the non-carriers in PD patients. The LRRK2 R1628P variant was very rare (0.78% in patients versus 0.26% in controls) in the tested 384 patient-control pairs, and was not a significant risk factor. This study supports that the LRRK2 G2385R variant may be a genetic risk factor for sporadic PD in the Korean population.

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