title: Single-nucleotide polymorphisms in the promoter region of the PARKIN gene and Parkinson's disease.
abstract: Mutations in the PARKIN gene have been identified in families with recessively inherited Parkinson disease (PD). Common DNA-polymorphisms at the PARKIN gene could contribute to the risk for PD in the general population. Here we searched for DNA-polymorphisms in the PARKIN promoter. We found two single nucleotide polymorphisms (-324 A/G and -797 A/G). In order to analyse the association of PD with these and two previously described polymorphisms (1281 G/A, Asp394Asn, and 601 G/A, Ser167Asn) we genotyped 105 patients and 150 healthy controls. Allele and genotype frequencies for the four polymorphisms did not differ between patients and controls, or between patients with an early-onset (< or =40 years; n = 20) and a late-onset (>40 years; n = 85). According to our data, the genetic variation at the PARKIN gene (including promoter polymorphisms) did not contribute to the risk of developing PD in the general population.
authors.affiliation: Genética Molecular-Instituto Investigación Nefrológica (IRSIN), Hospital Central de Asturias, 33006 Oviedo, Spain.
authors.forename: Ignacio F
authors.initials: IF
authors.lastname: Mata
authors.forename: Victoria
authors.initials: V
authors.lastname: Alvarez
authors.forename: Vanessa
authors.initials: V
authors.lastname: García-Moreira
authors.forename: Luis M
authors.initials: LM
authors.lastname: Guisasola
authors.forename: René
authors.initials: R
authors.lastname: Ribacoba
authors.forename: Carlos
authors.initials: C
authors.lastname: Salvador
authors.forename: Marta
authors.initials: M
authors.lastname: Blázquez
authors.forename: Rogelio González
authors.initials: RG
authors.lastname: Sarmiento
authors.forename: Carlos H
authors.initials: CH
authors.lastname: Lahoz
authors.forename: Bernardino B
authors.initials: BB
authors.lastname: Menes
authors.forename: Eliecer Coto
authors.initials: EC
authors.lastname: García
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016009:Chi-Square Distribution; D005260:Female; D006801:Humans; D008025:Ligases / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012307:Risk Factors; D044767:Ubiquitin-Protein Ligases
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases