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- Title
LRRK2 Gly2385Arg variant is a risk factor of Parkinson’s disease among Han-Chinese from mainland China.
- Authors
An, X.-K.; Peng, R.; Li, T.; Burgunder, J.-M.; Wu, Y.; Chen, W.-J.; Zhang, J.-H.; Wang, Y.-C.; Xu, Y.-M.; Gou, Y.-R.; Yuan, G.-G.; Zhang, Z.-J.
- Abstract
Mutations in the gene encoding Leucine-rich repeat kinase 2 (LRRK2) have been recently linked with autosomal-dominant parkinsonism, and polymorphisms have been commonly associated with sporadic Parkinson’s disease (PD). A p.2385G>R variant has been reported as a risk factor for PD in Taiwan, Singapore and Japan. Herein, we have assessed the frequency of this polymorphism among the ethnic Han-Chinese population in a case–control study. A total of 600 patients with PD and 334 unrelated healthy controls were genotyped using PCR-restriction fragment length polymorphism analysis. Hardy–Weinberg equilibrium of each group was calculated, and differences in genotype frequencies between groups were assessed by the Chi-square test. In the PD cohort, 70 patients (11.7%) were heterozygous and 1 (0.2%) was homozygous for the p.2385G>R variant. This was significantly more frequent than in the controls [3.3%, Odds ratio = 3.9, 95% confidence interval (CI) = 2.1–7.5, P < 0.01]. Clinically, the age of PD onset of the p.2385G>R carriers was lower than the non-carriers ( P = 0.01). Our study indicates that this LRRK2 p.2385G>R substitution contributes to the development of PD in ethnic Han-Chinese population, which may play important implications for future study on molecular genetics and pathogenesis of PD.
- Subjects
CHINA; GENES; PARKINSON'S disease; GENETIC polymorphisms; GENETIC mutation; LEUCINE
- Publication
European Journal of Neurology, 2008, Vol 15, Issue 3, p301
- ISSN
1351-5101
- Publication type
Article
- DOI
10.1111/j.1468-1331.2007.02052.x