title: Association of alpha-synuclein Rep1 polymorphism and Parkinson's disease: influence of Rep1 on age at onset.
abstract: The alpha-synuclein Rep1 polymorphism was studied in patients and controls in an ethnic Greek population. There was an association of allele 2 with risk of Parkinson's disease (PD; adjusted odd ratio = 3.25; 95% CI = 1.80-5.87). Survival analyses (Cox proportional hazards models) were employed to explore the influence of genotypes on age at onset of PD. Age at onset of carriers of at least one Rep1 allele 2 was earlier (3.6 years) compared to noncarriers (adjusted hazard ratio = 2.21; 95% CI = 1.58-3.10). Kaplan-Meier analysis also supported a dosage effect of Rep1 allele 2 on age at onset. For Rep1 allele 1, there was neither association with risk of PD nor influence on age at onset. This is the first study showing an influence of Rep1 polymorphism on age at onset of PD.
authors.affiliation: Neurogenetics Unit, Department of Neurology, Medical School, University of Thessaly, Larissa, Greece. gmhadji@med.uth.gr
authors.forename: Georgios M
authors.initials: GM
authors.lastname: Hadjigeorgiou
authors.forename: Georgia
authors.initials: G
authors.lastname: Xiromerisiou
authors.forename: Vanessa
authors.initials: V
authors.lastname: Gourbali
authors.forename: Kostantinos
authors.initials: K
authors.lastname: Aggelakis
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Scarmeas
authors.forename: Alexandros
authors.initials: A
authors.lastname: Papadimitriou
authors.forename: Andrew
authors.initials: A
authors.lastname: Singleton
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000704:Analysis of Variance; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D016001:Confidence Intervals; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006115:Greece / Q000208:ethnology; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D008875:Middle Aged; D016017:Odds Ratio; D010300:Parkinson Disease / Q000235:genetics* / Q000401:mortality; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D016019:Survival Analysis; D051844:alpha-Synuclein / Q000235:genetics*
chemical_list: D051844:alpha-Synuclein