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Title: Pathogenicity of LRRK2 P755L variant in Parkinson's disease
Authors: Tan E.-K. 
Lim H.-Q.
Yuen Y.
Zhao Y.
Keywords: LRRK2
Parkinson's disease
Issue Date: 2008
Publisher: Wiley
Citation: Tan E.-K., Lim H.-Q., Yuen Y., Zhao Y. (2008). Pathogenicity of LRRK2 P755L variant in Parkinson's disease. Movement Disorders 23 (5) : 734-736. ScholarBank@NUS Repository.
Abstract: A heterozygous 2264C T variant (P755L) in LRRK2 gene has been reported to be a likely pathogenic variant among ethnic Chinese patients with Parkinson's disease (PD). In a case control study, we performed genetic analysis of the P755L variant in an independent cohort of Chinese patients with PD and controls. The P755L variant was present in 4/204 (2.0%) of PD compared with 6/235 (2.6 %) of controls (odds ratio = 0.76, 95 % CI 0.23, 2.6, P = 0.76). All subjects carried the heterozygous genotype. Subset analysis in the group 65 years of age revealed a prevalence of 2.8% in PD compared with 3.1% in controls (odds ratio = 0.92, 95% CI 022, 3.7, P = 0.9), and in the group <65 years of age showed a 0% in PD) versus 2.1% in controls (P = 0.2). The phenotype of patients with PD with the P755L variant was generally similar to other patients with PD and none of the carriers reported a positive family history. The lack of functional data, absence of segregation of the variant with disease, and the presence of the variant in apparently healthy individuals suggest that P755L is possibly a rare polymorphism in the Chinese population. Further validation of our findings in other populations would be important. 2008 Movement Disorder Society.
Source Title: Movement Disorders
ISSN: 08853185
DOI: 10.1002/mds.21852
Appears in Collections:Staff Publications

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