title: LRRK2 R1628P contributes to Parkinson's disease susceptibility in Chinese Han populations from mainland China.
abstract: Common genetic variants that increase the risk for Parkinson's disease (PD) may differentiate patient subgroups and influence future individual therapeutic strategies. Previous studies have found associations between PD and polymorphisms located within the leucine-rich repeat kinase 2 (LRRK2) gene in ethnic Han Chinese from Taiwan and Singapore. Herein, we performed a case-control study and provide evidence supporting the LRRK2 R1628P variant as a risk factor for PD in 2 separate Chinese Han populations from mainland China. A total of 328 PD patients and 300 control individuals were genotyped using PCR-restriction fragment length polymorphism analysis. Differences in genotype frequencies between groups were assessed by the chi-square test. In the PD group, 17 patients (5.2%) were heterozygous for the R1628P variant. This was significantly higher than for the control group [2.0%, P<0.05].No one carrier of the LRRK2 G2385R variant was detected in all the carriers of the R1628P variant. Our results confirm that the LRRK2 R1628P variant contributes to the pathogenesis of PD in Chinese Han populations.
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province 610041, PR China.
authors.forename: Lihua
authors.initials: L
authors.lastname: Yu
authors.forename: Fayun
authors.initials: F
authors.lastname: Hu
authors.forename: Xiaoyi
authors.initials: X
authors.lastname: Zou
authors.forename: Yi
authors.initials: Y
authors.lastname: Jiang
authors.forename: Yan
authors.initials: Y
authors.lastname: Liu
authors.forename: Xianghua
authors.initials: X
authors.lastname: He
authors.forename: Jing
authors.initials: J
authors.lastname: Xi
authors.forename: Ling
authors.initials: L
authors.lastname: Liu
authors.forename: Zhuolin
authors.initials: Z
authors.lastname: Liu
authors.forename: Li
authors.initials: L
authors.lastname: He
authors.forename: Yanming
authors.initials: Y
authors.lastname: Xu
mesh_terms: D017668:Age of Onset; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010300:Parkinson Disease / Q000453:epidemiology* / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases