title: Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease.
abstract: BACKGROUND
  Mutations in the parkin gene, an E3 protein-ubiquitin ligase, cause autosomal recessive early-onset Parkinson disease (PD). The role of polymorphisms in the parkin gene as risk factors for PD is still unclear, as the results in the literature are contradictory.
  
  
  METHODS
  We compared the allele and genotype frequencies of the Ser167Asn, Arg366Trp, Val380Leu, and Asp394Asn polymorphisms in 194 patients with PD (92 familial and 102 sporadic) and 125 control subjects.
  
  
  RESULTS
  Homozygous Val380 was significantly associated with sporadic PD (P =.008). There was also a trend toward an association of homozygous Asp394 with familial PD (P =.07).
  
  
  CONCLUSIONS
  Some parkin polymorphisms appear to be risk factors for sporadic or familial PD. The functional effects of these coding polymorphisms need to be established, and further studies on parkin polymorphisms in PD should be undertaken.
authors.affiliation: Institut National de la Santé et de la Recherche Médicale, Unit 289, Hôpital de la Salpêtrière, Assistance Publique-Hôpitaux de Paris, France.
authors.forename: Christoph-Burkhard
authors.initials: CB
authors.lastname: Lücking
authors.forename: Véronique
authors.initials: V
authors.lastname: Chesneau
authors.forename: Ebba
authors.initials: E
authors.lastname: Lohmann
authors.forename: Patrice
authors.initials: P
authors.lastname: Verpillat
authors.forename: Cyprien
authors.initials: C
authors.lastname: Dulac
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Bonnet
authors.forename: Francesca
authors.initials: F
authors.lastname: Gasparini
authors.forename: Yves
authors.initials: Y
authors.lastname: Agid
authors.forename: Alexandra
authors.initials: A
authors.lastname: Dürr
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008025:Ligases / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases