S-Space College of Medicine/School of Medicine (의과대학/대학원) Laboratory Medicine (검사의학전공) Journal Papers (저널논문_검사의학전공)
The LRRK2 G2385R variant is a risk factor for sporadic Parkinson`s disease in the Korean population
- Kim, Jong-Min; Lee, Jee-Young; Kim, Ji Seon; Kim, Hee Jin; Cho, Jin-Hwan; Jeon, Beom S.; Park, Sung Sup; Shin, Eun-Soon
- Issue Date
- ELSEVIER SCI LTD
- PARKINSONISM & RELATED DISORDERS; Vol.16 2; 85-88
- 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. (C) 2009 Elsevier Ltd. All rights reserved.
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