title: No genetic association of the ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism with familial Parkinson's disease.
abstract: Parkinson's disease (PD) is a neurodegenerative disorder for which genetic susceptibility has been documented in sporadic and familial cases. Recently, a polymorphism located in exon 3 at codon 18 (S18Y) of the Ubiquitin Carboxy-terminal Hydrolase-L1 (UCH-L1) gene has been associated with the disease in 2 populations of German origin and also in a Japanese population. We tested the impact of this polymorphism in a French sample of familial PD patients (n = 114) and controls (n = 93). No association was observed, indicating that this polymorphism did not confer susceptibility for familial PD in our population, even among the youngest age of onset group. This observation suggests that the previous positive results obtained may reflect mechanisms restricted to the sporadic form of the disease or to a founder effect of the disease susceptibility.
authors.affiliation: INSERM 508, Institut Pasteur de Lille, France.
authors.forename: C
authors.initials: C
authors.lastname: Levecque
authors.forename: A
authors.initials: A
authors.lastname: Destée
authors.forename: V
authors.initials: V
authors.lastname: Mouroux
authors.forename: E
authors.initials: E
authors.lastname: Becquet
authors.forename: L
authors.initials: L
authors.lastname: Defebvre
authors.forename: P
authors.initials: P
authors.lastname: Amouyel
authors.forename: M C
authors.initials: MC
authors.lastname: Chartier-Harlin
mesh_terms: D017668:Age of Onset; D000368:Aged; D004252:DNA Mutational Analysis; D005260:Female; D005602:France; D005787:Gene Frequency; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010300:Parkinson Disease / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D011110:Polymorphism, Genetic / Q000235:genetics*; D012737:Sex Factors; D013869:Thiolester Hydrolases / Q000235:genetics* / Q000378:metabolism; D043222:Ubiquitin Thiolesterase
chemical_list: D013869:Thiolester Hydrolases; D043222:Ubiquitin Thiolesterase