title: The prevalence of LRRK2 Gly2385Arg variant in Chinese Han population with Parkinson's disease.
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.
authors.affiliation: Department of Neurology and Neuroscience Institute, Ruijin Hospital affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Cao
authors.initials: C
authors.lastname: Li
authors.forename: Zhang
authors.initials: Z
authors.lastname: Ting
authors.forename: Xiao
authors.initials: X
authors.lastname: Qin
authors.forename: Wang
authors.initials: W
authors.lastname: Ying
authors.forename: Bai
authors.initials: B
authors.lastname: Li
authors.forename: Lu
authors.initials: L
authors.lastname: Guo Qiang
authors.forename: Ma
authors.initials: M
authors.lastname: Jian Fang
authors.forename: Zhang
authors.initials: Z
authors.lastname: Jing
authors.forename: Ding
authors.initials: D
authors.lastname: Jian Qing
authors.forename: Chen
authors.initials: C
authors.lastname: Sheng Di
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D019943:Amino Acid Substitution; D000978:Antiparkinson Agents / Q000627:therapeutic use; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D004247:DNA / Q000235:genetics; D005260:Female; D018703:Founder Effect; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010300:Parkinson Disease / Q000453:epidemiology* / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D000978:Antiparkinson Agents; D007980:Levodopa; D004247:DNA; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases