title: ACT and UCH-L1 polymorphisms in Parkinson's disease and age of onset.
abstract: alpha1-Antichymotrypsin (ACT) and ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) have been suggested as susceptibility factors for Parkinson's disease (PD). We replicated these findings in a Chinese case-control sample consisting of 160 PD cases and 160 carefully matched control subjects. Genotypes were determined using polymerase chain reaction and BstN1 or Rsa1 restriction enzyme assay. Analysis showed no significant difference between PD patients and controls for genotype or allele frequencies of the ACT and UCH-L1 S18Y polymorphisms. UCH-L1 S18Y polymorphism carriers, however, were found to be significantly less frequent in early-onset PD patients with a reduced risk of 0.557 (95% C.I. = 0.314-0.985; P = 0.043). These data suggest that ACT polymorphism does not influence the risk for developing PD. UCH-L1 S18Y polymorphism, however, may be a weak protective factor against early-onset PD.
authors.affiliation: Institute of Genetics, School of Life Science, Fudan University, Shanghai, People's Republic of China. wangj@pharm.sunysb.edu
authors.forename: Jian
authors.initials: J
authors.lastname: Wang
authors.forename: Chun-Ying
authors.initials: CY
authors.lastname: Zhao
authors.forename: Yan-Mei
authors.initials: YM
authors.lastname: Si
authors.forename: Zhuo-Lin
authors.initials: ZL
authors.lastname: Liu
authors.forename: Biao
authors.initials: B
authors.lastname: Chen
authors.forename: Long
authors.initials: L
authors.lastname: Yu
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D012016:Reference Values; D018570:Risk Assessment; D013869:Thiolester Hydrolases / Q000235:genetics*; D043222:Ubiquitin Thiolesterase; D000514:alpha 1-Antichymotrypsin / Q000235:genetics*
chemical_list: D000514:alpha 1-Antichymotrypsin; D013869:Thiolester Hydrolases; D043222:Ubiquitin Thiolesterase