title: [Association analysis of the parkin gene in patients with sporadic Parkinson's disease from a Han population of Sichuan province].
abstract: OBJECTIVE
  To determine whether there are any associations between the -258T/G polymorphism of the promoter and the IVS3 -20T/C polymorphism in parkin gene and Parkinson's disease (PD) from a Han population in Sichuan province.
  
  
  METHODS
  Polymerase chain reaction (PCR), restriction fragment length polymorphism, denaturing high performance liquid chromatography(dHPLC) and sequence analysis were used to determine the genotype of each subject. The -258T/G polymorphism and IVS3 -20T/C polymorphism were analysed in 198 patients with sporadic PD and 187 healthy controls, matched for age and gender.
  
  
  RESULTS
  There were significant differences in allele frequency of the -258T/G polymorphism between PD patients and controls, with the G allele more common in cases than controls (52.5% vs 43.3%; chi square is 6.17, P< 0.025, OR is 1.45, 95% CI 1.04-1.86). There were also significant differences in G allele frequency between PD patients with onset age over 50 years old and controls(chi square is 9.048, P< 0.01, OR is 1.57, 95% CI:1.08-2.06). The frequency of TG+GG genotype was significantly higher in PD patients than in controls (78.79% vs 69.51%; chi square is 3.854, P< 0.05, OR is 1.63, 95% CI:0.88-2.38). In addition, there were significant differences in age of onset between PD patients with different genotypes (P< 0.05). The average age of onset in group of GG genotype was later about 5 years compared with the group of TT or TG genotype. The frequency of CC genotype in IVS3 -20T/C polymorphism was much higher than that of TC genotype. No TT genotype was found.
  
  
  CONCLUSIONS
  This study suggests that the parkin promoter -258T/G polymorphism might be a risk factor for late onset PD in Sichuan. CC genotype for IVS3 -20T/C polymorphism is common in Sichuan Han population. No TT genotype for IVS3 -20T/C polymorphism is found in Sichuan Han population.
authors.affiliation: Department of Neurology, West China Hospital of Sichuan University, Chengdu, Sichuan, 610041 PR China. qrpeng@hotmail.com
authors.forename: Rong
authors.initials: R
authors.lastname: Peng
authors.forename: Wen-jun
authors.initials: WJ
authors.lastname: Chen
authors.forename: Yan
authors.initials: Y
authors.lastname: Wu
authors.forename: Ming
authors.initials: M
authors.lastname: Liu
authors.forename: Xiao-hui
authors.initials: XH
authors.lastname: Lai
authors.forename: Jin-hong
authors.initials: JH
authors.lastname: Zhang
authors.forename: Guang-gu
authors.initials: GG
authors.lastname: Yuan
authors.forename: Ying-ru
authors.initials: YR
authors.lastname: Gou
authors.forename: Tao
authors.initials: T
authors.lastname: Li
authors.forename: Ying-cheng
authors.initials: YC
authors.lastname: Wang
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D002681:China; D002851:Chromatography, High Pressure Liquid; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000208:ethnology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011401:Promoter Regions, Genetic / Q000235:genetics; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein