title: Association of Common Variants in the Glucocerebrosidase Gene with High Susceptibility to Parkinson's Disease among Chinese.
abstract: The genetic variants in glucocerebrosidase (GBA) gene have been previously examined as potential susceptibility factors for Parkinson's disease (PD).  Although of great interest, possible role of GBA gene in PD has not been well investigated in eastern Chinese population.  To explore this association, we conducted a genetic screen of three common GBA variants (p.L444P, p.N370S, and p.R120W) in a casecontrol cohort comprised of 638 subjects of Chinese ethnicity.  In order to provide a more precise estimate of this association, a meta-analysis was performed.  We found that the GBA p.L444P allele was significantly more frequent (P = 0.001) in the PD patients (6/195 = 3.08%) than in the controls (0/443). The p.L444P mutation, but not p.N370S and p.R120W, was found to be associated with PD.  Combined analysis including all previously published ancestral Chinese data yielded a highly significant association between the GBA gene and an increased risk for PD (OR = 8.13, 95% CI, 4.43-14.92, P < 0.00001). Our study suggests that the GBA gene may be a susceptibility gene for PD in the Chinese population.  Efforts to elucidate in detail this interesting and biologically plausible genetic association are warranted.
authors.affiliation: Department of Neurology and Institute of Neurology, First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, Fujian, People's Republic of China.
authors.forename: Xiong
authors.initials: X
authors.lastname: Zhang
authors.forename: Qiong-Qiong
authors.initials: QQ
authors.lastname: Bao
authors.forename: Xiao-Sai
authors.initials: XS
authors.lastname: Zhuang
authors.forename: Shi-Rui
authors.initials: SR
authors.lastname: Gan
authors.forename: Dan
authors.initials: D
authors.lastname: Zhao
authors.forename: Yun
authors.initials: Y
authors.lastname: Liu
authors.forename: Qiao
authors.initials: Q
authors.lastname: Hu
authors.forename: Ying
authors.initials: Y
authors.lastname: Chen
authors.forename: Feiyan
authors.initials: F
authors.lastname: Zhu
authors.forename: Lian
authors.initials: L
authors.lastname: Wang
authors.forename: Ning
authors.initials: N
authors.lastname: Wang
mesh_terms: D044466:Asian People / Q000235:genetics; D002681:China; D020022:Genetic Predisposition to Disease; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*
chemical_list: D005962:Glucosylceramidase