title: [Association of PARK 16 polymorphisms with Parkinson's disease in Han population of Suzhou area].
abstract: OBJECTIVE
  To investigate whether there is an association of PARK 16 locus with Parkinson's disease (PD) in Han population of Suzhou area.
  
  
  METHODS
  Polymerase chain reaction (PCR), sequencing analysis, allele-specific PCR mediated by pfu DNA polymerases and real-time PCR were employed to determine the genotype of each subject. The PARK16 representative SNP rs947211 was analyzed in 160 PD patients and 200 age-matched healthy controls.
  
  
  RESULTS
  The results of pfu-mediated allele-specific PCR were 100% concordant with the direct-sequencing analysis. All genotypes were found in this study. A significant distinction occurred in the allelic frequency of rs947211. There was a higher expression of G allele in PD patients versus the controls (60.63% vs 51.00%; χ(2) = 6.662, P = 0.010, OR = 0.676, 95%CI 0.502 - 0.911). There were remarkable differences between G/G genotype and A/G + A/A genotype of two groups (χ(2) = 8.401, P = 0.004, OR = 1.951, 95%CI 1.238 - 3.076). In addition, a significant distinction also existed in different genotypes through H&Y stage (P < 0.05). For example, the stage of G/G was higher than A/A genotype (P = 0.025, 95%CI 0.059 - 0.851) or A/G genotype (P = 0.020, 95%CI 0.058 - 0.654).
  
  
  CONCLUSIONS
  We have established a simple and reliable rs947211 genotyping method mediated by pfu DNA polymerases. The results confirmed the existence of PARK16 in Han population of Suzhou area, rs947211 G/G genotype maybe a risk factor for PD and G/G genotype carriers perhaps obtain higher illness severity.
authors.affiliation: Department of Neurology, Second Affiliated Hospital, Soochow University, Suzhou 215004, China.
authors.forename: Dong-Hui
authors.initials: DH
authors.lastname: Li
authors.forename: Jin
authors.initials: J
authors.lastname: Wang
authors.forename: Cheng-Jie
authors.initials: CJ
authors.lastname: Mao
authors.forename: Wei-Dong
authors.initials: WD
authors.lastname: Hu
authors.forename: Li
authors.initials: L
authors.lastname: Xiao
authors.forename: Ya-Ping
authors.initials: YP
authors.lastname: Yang
authors.forename: Zheng-Hong
authors.initials: ZH
authors.lastname: Qin
authors.forename: Chun-Feng
authors.initials: CF
authors.lastname: Liu
mesh_terms: D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein