Abstract
We conducted a case-control study to determine the prevalence of the LRRK2 Gly2385Arg variant in patients with Parkinson's disease in Han population in mainland China. Heterozygous LRRK2 Gly2385Arg variant was identified in 14 of 235 patients with Parkinson's disease (5.69%), but not in 214 unrelated healthy controls. Multivariate analysis indicated the frequency of Gly2385Arg variant in the female patients with early age at onset is higher than their male counterparts. The founder haplotype analysis showed the variant carriers shared the same founder. Clinically, the LRRK2 Gly2385Arg carriers presented with classical Parkinson's disease symptoms. Our study indicates that the LRRK2 Gly2385Arg variant is a potential ethnic-specific genetic risk factor of Parkinson's disease within Chinese Han ethnicity.
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